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Biostrings - Efficient manipulation of biological strings

Memory efficient string containers, string matching algorithms, and other utilities, for fast manipulation of large biological sequences or sets of sequences.

Last updated

sequencematchingalignmentsequencinggeneticsdataimportdatarepresentationinfrastructurebioconductor-packagecore-package

18.08 score 68 stars 1.2k dependents 14k scripts 102k downloads

BiocGenerics - S4 generic functions used in Bioconductor

The package defines many S4 generic functions used in Bioconductor.

Last updated

infrastructurebioconductor-packagecore-package

14.99 score 13 stars 2.4k dependents 1.2k scripts 126k downloads

MSnbase - Base Functions and Classes for Mass Spectrometry and Proteomics

MSnbase provides infrastructure for manipulation, processing and visualisation of mass spectrometry and proteomics data, ranging from raw to quantitative and annotated data.

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immunooncologyinfrastructureproteomicsmassspectrometryqualitycontroldataimportbioconductorbioinformaticsmass-spectrometryproteomics-datavisualisationcpp

14.89 score 137 stars 37 dependents 1.2k scripts 6.1k downloads

Biobase - Biobase: Base functions for Bioconductor

Functions that are needed by many other packages or which replace R functions.

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infrastructurebioconductor-packagecore-package

14.44 score 9 stars 1.9k dependents 7.4k scripts

SingleR - Reference-Based Single-Cell RNA-Seq Annotation

Performs unbiased cell type recognition from single-cell RNA sequencing data, by leveraging reference transcriptomic datasets of pure cell types to infer the cell of origin of each single cell independently.

Last updated

softwaresinglecellgeneexpressiontranscriptomicsclassificationclusteringannotationbioconductorsinglercpp

13.30 score 204 stars 3 dependents 3.8k scripts 7.2k downloads

limma - Linear Models for Microarray and Omics Data

Data analysis, linear models and differential expression for omics data.

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exonarraygeneexpressiontranscriptionalternativesplicingdifferentialexpressiondifferentialsplicinggenesetenrichmentdataimportbayesianclusteringregressiontimecoursemicroarraymicrornaarraymrnamicroarrayonechannelproprietaryplatformstwochannelsequencingrnaseqbatcheffectmultiplecomparisonnormalizationpreprocessingqualitycontrolbiomedicalinformaticscellbiologycheminformaticsepigeneticsfunctionalgenomicsgeneticsimmunooncologymetabolomicsproteomicssystemsbiologytranscriptomics

11.98 score 641 dependents 22k scripts

edgeR - Empirical Analysis of Digital Gene Expression Data in R

Differential expression analysis of sequence count data. Implements a range of statistical methodology based on the negative binomial distributions, including empirical Bayes estimation, exact tests, generalized linear models, quasi-likelihood, and gene set enrichment. Can perform differential analyses of any type of omics data that produces read counts, including RNA-seq, ChIP-seq, ATAC-seq, Bisulfite-seq, SAGE, CAGE, metabolomics, or proteomics spectral counts. RNA-seq analyses can be conducted at the gene or isoform level, and tests can be conducted for differential exon or transcript usage.

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alternativesplicingbatcheffectbayesianbiomedicalinformaticscellbiologychipseqclusteringcoveragedifferentialexpressiondifferentialmethylationdifferentialsplicingdnamethylationepigeneticsfunctionalgenomicsgeneexpressiongenesetenrichmentgeneticsimmunooncologymultiplecomparisonnormalizationpathwaysproteomicsqualitycontrolregressionrnaseqsagesequencingsinglecellsystemsbiologytimecoursetranscriptiontranscriptomicsopenblas

11.87 score 287 dependents 29k scripts

VariantAnnotation - Annotation of Genetic Variants

Annotate variants, compute amino acid coding changes, predict coding outcomes.

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dataimportsequencingsnpannotationgeneticsvariantannotationcurlbzip2xz-utilszlib

11.54 score 156 dependents 3.1k scripts 16k downloads

tximeta - Transcript Quantification Import with Automatic Metadata

Transcript quantification import from Salmon and other quantifiers with automatic attachment of transcript ranges and release information, and other associated metadata. De novo transcriptomes can be linked to the appropriate sources with linkedTxomes and shared for computational reproducibility.

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annotationgenomeannotationdataimportpreprocessingrnaseqlongreadsinglecelltranscriptomicstranscriptiongeneexpressionfunctionalgenomicsreproducibleresearchreportwritingimmunooncology

11.33 score 72 stars 1 dependents 625 scripts 2.4k downloads

destiny - Creates diffusion maps

Create and plot diffusion maps.

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cellbiologycellbasedassaysclusteringsoftwarevisualizationdiffusion-mapsdimensionality-reductioncpp

10.18 score 108 stars 1 dependents 1.1k scripts 1.8k downloads

scater - Single-Cell Analysis Toolkit for Gene Expression Data in R

A collection of tools for doing various analyses of single-cell RNA-seq gene expression data, with a focus on quality control and visualization.

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immunooncologysinglecellrnaseqqualitycontrolpreprocessingnormalizationvisualizationdimensionreductiontranscriptomicsgeneexpressionsequencingsoftwaredataimportdatarepresentationinfrastructurecoverage

10.08 score 56 dependents 14k scripts

flowCore - flowCore: Basic structures for flow cytometry data

Provides S4 data structures and basic functions to deal with flow cytometry data.

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immunooncologyinfrastructureflowcytometrycellbasedassayscurlopensslopenblascpp

10.03 score 63 dependents 2.2k scripts

Rsubread - Mapping, quantification and variant analysis of sequencing data

Alignment, quantification and analysis of RNA sequencing data (including both bulk RNA-seq and scRNA-seq) and DNA sequenicng data (including ATAC-seq, ChIP-seq, WGS, WES etc). Includes functionality for read mapping, read counting, SNP calling, structural variant detection and gene fusion discovery. Can be applied to all major sequencing techologies and to both short and long sequence reads.

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sequencingalignmentsequencematchingrnaseqchipseqsinglecellgeneexpressiongeneregulationgeneticsimmunooncologysnpgeneticvariabilitypreprocessingqualitycontrolgenomeannotationgenefusiondetectionindeldetectionvariantannotationvariantdetectionmultiplesequencealignmentzlib

9.01 score 10 dependents 1.6k scripts

hypeR - An R Package For Geneset Enrichment Workflows

An R Package for Geneset Enrichment Workflows.

Last updated

genesetenrichmentannotationpathwaysbioinformaticscomputational-biologygeneset-enrichment-analysis

9.00 score 79 stars 349 scripts 440 downloads

qpgraph - Estimation of Genetic and Molecular Regulatory Networks from High-Throughput Genomics Data

Estimate gene and eQTL networks from high-throughput expression and genotyping assays.

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microarraygeneexpressiontranscriptionpathwaysnetworkinferencegraphandnetworkgeneregulationgeneticsgeneticvariabilitysnpsoftwareopenblas

8.54 score 3 stars 3 dependents 20 scripts

csaw - ChIP-Seq Analysis with Windows

Detection of differentially bound regions in ChIP-seq data with sliding windows, with methods for normalization and proper FDR control.

Last updated

multiplecomparisonchipseqnormalizationsequencingcoveragegeneticsannotationdifferentialpeakcallingcurlbzip2xz-utilszlibcpp

8.47 score 9 dependents 704 scripts 1.0k downloads

PTMods - Managing Post-Translational Modifications in R

An interface to the community supported database for amino acid/protein modifications using mass spectrometry.

Last updated

proteomicsmassspectrometryamino-acid-modificationsmass-spectrometryprotein

8.31 score 11 stars 41 dependents 5 scripts

EBSeq - An R package for gene and isoform differential expression analysis of RNA-seq data

Differential Expression analysis at both gene and isoform level using RNA-seq data

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immunooncologystatisticalmethoddifferentialexpressionmultiplecomparisonrnaseqsequencingcpp

7.96 score 6 dependents 205 scripts

DiffBind - Differential Binding Analysis of ChIP-Seq Peak Data

Compute differentially bound sites from multiple ChIP-seq experiments using affinity (quantitative) data. Also enables occupancy (overlap) analysis and plotting functions.

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sequencingchipseqatacseqdnaseseqmethylseqripseqdifferentialpeakcallingdifferentialmethylationgeneregulationhistonemodificationpeakdetectionbiomedicalinformaticscellbiologymultiplecomparisonnormalizationreportwritingepigeneticsfunctionalgenomicscurlbzip2xz-utilszlibcpp

7.45 score 2 dependents 1.2k scripts

Moonlight2R - Identify oncogenes and tumor suppressor genes from omics data

The understanding of cancer mechanism requires the identification of genes playing a role in the development of the pathology and the characterization of their role (notably oncogenes and tumor suppressors). We present an updated version of the R/bioconductor package called MoonlightR, namely Moonlight2R, which returns a list of candidate driver genes for specific cancer types on the basis of omics data integration. The Moonlight framework contains a primary layer where gene expression data and information about biological processes are integrated to predict genes called oncogenic mediators, divided into putative tumor suppressors and putative oncogenes. This is done through functional enrichment analyses, gene regulatory networks and upstream regulator analyses to score the importance of well-known biological processes with respect to the studied cancer type. By evaluating the effect of the oncogenic mediators on biological processes or through random forests, the primary layer predicts two putative roles for the oncogenic mediators: i) tumor suppressor genes (TSGs) and ii) oncogenes (OCGs). As gene expression data alone is not enough to explain the deregulation of the genes, a second layer of evidence is needed. We have automated the integration of a secondary mutational layer through new functionalities in Moonlight2R. These functionalities analyze mutations in the cancer cohort and classifies these into driver and passenger mutations using the driver mutation prediction tool, CScape-somatic. Those oncogenic mediators with at least one driver mutation are retained as the driver genes. As a consequence, this methodology does not only identify genes playing a dual role (e.g. TSG in one cancer type and OCG in another) but also helps in elucidating the biological processes underlying their specific roles. In particular, Moonlight2R can be used to discover OCGs and TSGs in the same cancer type. This may for instance help in answering the question whether some genes change role between early stages (I, II) and late stages (III, IV). In the future, this analysis could be useful to determine the causes of different resistances to chemotherapeutic treatments. An additional mechanistic layer evaluates if there are mutations affecting the protein stability of the transcription factors (TFs) of the TSGs and OCGs, as that may have an effect on the expression of the genes.

Last updated

dnamethylationdifferentialmethylationgeneregulationgeneexpressionmethylationarraydifferentialexpressionpathwaysnetworksurvivalgenesetenrichmentnetworkenrichment

6.87 score 5 stars 47 scripts 351 downloads

RnBeads - RnBeads

RnBeads facilitates comprehensive analysis of various types of DNA methylation data at the genome scale.

Last updated

dnamethylationmethylationarraymethylseqepigeneticsqualitycontrolpreprocessingbatcheffectdifferentialmethylationsequencingcpgislandimmunooncologytwochanneldataimport

6.79 score 1 dependents 257 scripts 872 downloads

ENmix - Quality control and analysis tools for Illumina DNA methylation BeadChip

Tools for quanlity control, analysis and visulization of Illumina DNA methylation array data.

Last updated

dnamethylationpreprocessingqualitycontroltwochannelmicroarrayonechannelmethylationarraybatcheffectnormalizationdataimportregressionprincipalcomponentepigeneticsmultichanneldifferentialmethylationimmunooncology

6.77 score 1 dependents 197 scripts

kebabs - Kernel-Based Analysis of Biological Sequences

The package provides functionality for kernel-based analysis of DNA, RNA, and amino acid sequences via SVM-based methods. As core functionality, kebabs implements following sequence kernels: spectrum kernel, mismatch kernel, gappy pair kernel, and motif kernel. Apart from an efficient implementation of standard position-independent functionality, the kernels are extended in a novel way to take the position of patterns into account for the similarity measure. Because of the flexibility of the kernel formulation, other kernels like the weighted degree kernel or the shifted weighted degree kernel with constant weighting of positions are included as special cases. An annotation-specific variant of the kernels uses annotation information placed along the sequence together with the patterns in the sequence. The package allows for the generation of a kernel matrix or an explicit feature representation in dense or sparse format for all available kernels which can be used with methods implemented in other R packages. With focus on SVM-based methods, kebabs provides a framework which simplifies the usage of existing SVM implementations in kernlab, e1071, and LiblineaR. Binary and multi-class classification as well as regression tasks can be used in a unified way without having to deal with the different functions, parameters, and formats of the selected SVM. As support for choosing hyperparameters, the package provides cross validation - including grouped cross validation, grid search and model selection functions. For easier biological interpretation of the results, the package computes feature weights for all SVMs and prediction profiles which show the contribution of individual sequence positions to the prediction result and indicate the relevance of sequence sections for the learning result and the underlying biological functions.

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supportvectormachineclassificationclusteringregressioncpp

6.73 score 3 dependents 50 scripts

BEclear - Correction of batch effects in DNA methylation data

Provides functions to detect and correct for batch effects in DNA methylation data. The core function is based on latent factor models and can also be used to predict missing values in any other matrix containing real numbers.

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batcheffectdnamethylationsoftwarepreprocessingstatisticalmethodbatch-effectsbioconductor-packagedna-methylationlatent-factor-modelmethylationmissing-datamissing-valuesstochastic-gradient-descentcpp

6.64 score 5 stars 16 scripts 432 downloads

crisprViz - Visualization Functions for CRISPR gRNAs

Provides functionalities to visualize and contextualize CRISPR guide RNAs (gRNAs) on genomic tracks across nucleases and applications. Works in conjunction with the crisprBase and crisprDesign Bioconductor packages. Plots are produced using the Gviz framework.

Last updated

crisprfunctionalgenomicsgenetargetbioconductorbioconductor-packagecrispr-analysiscrispr-designgrnagrna-sequencegrna-sequencessgrnasgrna-designvisualization

6.16 score 8 stars 2 dependents 6 scripts

rexposome - Exposome exploration and outcome data analysis

Package that allows to explore the exposome and to perform association analyses between exposures and health outcomes.

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softwarebiologicalquestioninfrastructuredataimportdatarepresentationbiomedicalinformaticsexperimentaldesignmultiplecomparisonclassificationclustering

6.13 score 1 dependents 30 scripts 490 downloads

omicsViewer - Interactive and explorative visualization of SummarizedExperssionSet or ExpressionSet using omicsViewer

omicsViewer visualizes ExpressionSet (or SummarizedExperiment) in an interactive way. The omicsViewer has a separate back- and front-end. In the back-end, users need to prepare an ExpressionSet that contains all the necessary information for the downstream data interpretation. Some extra requirements on the headers of phenotype data or feature data are imposed so that the provided information can be clearly recognized by the front-end, at the same time, keep a minimum modification on the existing ExpressionSet object. The pure dependency on R/Bioconductor guarantees maximum flexibility in the statistical analysis in the back-end. Once the ExpressionSet is prepared, it can be visualized using the front-end, implemented by shiny and plotly. Both features and samples could be selected from (data) tables or graphs (scatter plot/heatmap). Different types of analyses, such as enrichment analysis (using Bioconductor package fgsea or fisher's exact test) and STRING network analysis, will be performed on the fly and the results are visualized simultaneously. When a subset of samples and a phenotype variable is selected, a significance test on means (t-test or ranked based test; when phenotype variable is quantitative) or test of independence (chi-square or fisher’s exact test; when phenotype data is categorical) will be performed to test the association between the phenotype of interest with the selected samples. Additionally, other analyses can be easily added as extra shiny modules. Therefore, omicsViewer will greatly facilitate data exploration, many different hypotheses can be explored in a short time without the need for knowledge of R. In addition, the resulting data could be easily shared using a shiny server. Otherwise, a standalone version of omicsViewer together with designated omics data could be easily created by integrating it with portable R, which can be shared with collaborators or submitted as supplementary data together with a manuscript.

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softwarevisualizationgenesetenrichmentdifferentialexpressionmotifdiscoverynetworknetworkenrichment

6.02 score 4 stars 25 scripts

regsplice - L1-regularization based methods for detection of differential splicing

Statistical methods for detection of differential splicing (differential exon usage) in RNA-seq and exon microarray data, using L1-regularization (lasso) to improve power.

Last updated

immunooncologyalternativesplicingdifferentialexpressiondifferentialsplicingsequencingrnaseqmicroarrayexonarrayexperimentaldesignsoftware

5.94 score 3 stars 32 scripts 396 downloads

epiRomics - Epigenomic Analysis Package Built for R (epiRomics)

Integrates various levels of epigenomic information, including ChIP-seq, histone modification, ATAC-seq, and RNA-seq data. Regulatory network analysis uses combinatory approaches to infer regions of significance, such as enhancers. Downstream analysis identifies co-occurrence of epigenomic data at regions of interest. Visualization functions display multi-track genomic views with signal overlays. Please contact <[email protected]> for suggestions, feedback, or bug reporting.

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epigeneticschipseqatacseqrnaseqvisualizationsequencingsoftwarehistonemodificationgeneregulationtranscriptionfunctionalgenomicsatac-seqchip-seqchromatin-accessibiitydata-visualizationenhancerenhancer-predictionepigenomicshistonemulti-omicsregulatory-networkregulome-analysisrna-seqtranscription-factor-bindingtranscription-factorsucsc-browser

5.86 score 5 stars 41 scripts

splicelogic - splicelogic: differential transcripts to splice events

Translate differential transcript usage results into discrete splice events.

Last updated

alternativesplicingdifferentialsplicingtranscriptomicsrnaseqlongreadannotationfunctionalgenomicsdtusplicing

5.82 score 2 stars 2 scripts 166 downloads

R3CPET - 3CPET: Finding Co-factor Complexes in Chia-PET experiment using a Hierarchical Dirichlet Process

The package provides a method to infer the set of proteins that are more probably to work together to maintain chormatin interaction given a ChIA-PET experiment results.

Last updated

networkinferencegenepredictionbayesiangraphandnetworknetworkgeneexpressionhicchia-petchromatin-interactiondirichlet-process-mixturestranscription-factocpp

5.62 score 4 stars 6 scripts

MDSvis - Plots of Multi Dimensional Scaling (MDS) results

This package implements visulization of Multi Dimensional Scaling (MDS) results.

Last updated

flowcytometryqualitycontroldimensionreductionmultidimensionalscalingsoftwarevisualizationbioconductormdsshinyvisualisation

5.26 score 5 scripts

TFEA.ChIP - TFEA.ChIP, a Tool Kit for Transcription Factor Enrichment

Package to analyze transcription factor enrichment in a gene set using data from ChIP-Seq experiments.

Last updated

transcriptiongeneregulationgenesetenrichmenttranscriptomicssequencingchipseqrnaseqimmunooncologygeneexpressionchiponchip

5.18 score 20 scripts

scQTLtools - scQTLtools: an R/Bioconductor package for comprehensive identification and visualization of single-cell eQTLs

scQTLtools is a comprehensive R/Bioconductor package that facilitates end-to-end single-cell eQTL analysis, from preprocessing to visualization

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softwaregeneexpressiongeneticvariabilitysnpdifferentialexpressiongenomicvariationvariantdetectiongeneticsfunctionalgenomicssystemsbiologyregressionsinglecellnormalizationvisualizationpreprocessingrna-seqsc-eqtl

5.18 score 6 stars 6 scripts

damidBind - Differential Binding and Expression Analysis for DamID-seq Data

The damidBind package provides a straightforward formal analysis pipeline to analyse and explore differential DamID binding, gene transcription or chromatin accessibility between two conditions. The package imports processed data from DamID-seq experiments, either as external raw files in the form of binding bedGraphs and GFF/BED peak calls, or as internal lists of GRanges objects. After optionally normalising data, combining peaks across replicates and determining per-replicate peak occupancy, the package links bound loci to nearby genes. For RNA Polymerase DamID data, the package calculates occupancy over genes, and optionally calcualates the FDR of significantly-enriched gene occupancy. damidBind then uses either limma (for conventional log2 ratio DamID binding data) or NOIseq (for counts-based CATaDa chromatin accessibility data) to identify differentially-enriched regions, or differentially epxressed genes, between two conditions. The package provides a number of visualisation tools (volcano plots, Gene Ontology enrichment plots via ClusterProfiler and proportional Venn diagrams via BioVenn for downstream data exploration and analysis. An powerful, interactive IGV genome browser interface (powered by Shiny and igvShiny) allows users to rapidly and intuitively assess significant differentially-bound regions in their genomic context.

Last updated

differentialexpressiongeneexpressiontranscriptionepigeneticsvisualizationsequencingsoftwaregeneregulationcatadadamiddifferential-bindingdifferential-expression-analysisgene-expressiontargeted-damidtranscription-factors

5.11 score 1 stars 16 scripts

notameViz - Workflow for non-targeted LC-MS metabolic profiling

Provides visualization functionality for untargeted LC-MS metabolomics research. Includes quality control visualizations, feature-wise visualizations and results visualizations.

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biomedicalinformaticsmetabolomicsdataimportmassspectrometrybatcheffectmultiplecomparisonnormalizationqualitycontrolvisualizationpreprocessing

5.04 score 6 scripts

notameStats - Workflow for non-targeted LC-MS metabolic profiling

Provides univariate and multivariate statistics for feature prioritization in untargeted LC-MS metabolomics research.

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biomedicalinformaticsmetabolomicsdataimportmassspectrometrybatcheffectmultiplecomparisonnormalizationqualitycontrolvisualizationpreprocessing

4.95 score 5 scripts

chevreulPlot - Plots used in the chevreulPlot package

Tools for plotting SingleCellExperiment objects in the chevreulPlot package. Includes functions for analysis and visualization of single-cell data. Supported by NIH grants R01CA137124 and R01EY026661 to David Cobrinik.

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coveragernaseqsequencingvisualizationgeneexpressiontranscriptionsinglecelltranscriptomicsnormalizationpreprocessingqualitycontroldimensionreductiondataimport

4.78 score 1 dependents 3 scripts

TargetDecoy - Diagnostic Plots to Evaluate the Target Decoy Approach

A first step in the data analysis of Mass Spectrometry (MS) based proteomics data is to identify peptides and proteins. With this respect the huge number of experimental mass spectra typically have to be assigned to theoretical peptides derived from a sequence database. Search engines are used for this purpose. These tools compare each of the observed spectra to all candidate theoretical spectra derived from the sequence data base and calculate a score for each comparison. The observed spectrum is then assigned to the theoretical peptide with the best score, which is also referred to as the peptide to spectrum match (PSM). It is of course crucial for the downstream analysis to evaluate the quality of these matches. Therefore False Discovery Rate (FDR) control is used to return a reliable list PSMs. The FDR, however, requires a good characterisation of the score distribution of PSMs that are matched to the wrong peptide (bad target hits). In proteomics, the target decoy approach (TDA) is typically used for this purpose. The TDA method matches the spectra to a database of real (targets) and nonsense peptides (decoys). A popular approach to generate these decoys is to reverse the target database. Hence, all the PSMs that match to a decoy are known to be bad hits and the distribution of their scores are used to estimate the distribution of the bad scoring target PSMs. A crucial assumption of the TDA is that the decoy PSM hits have similar properties as bad target hits so that the decoy PSM scores are a good simulation of the target PSM scores. Users, however, typically do not evaluate these assumptions. To this end we developed TargetDecoy to generate diagnostic plots to evaluate the quality of the target decoy method.

Last updated

massspectrometryproteomicsqualitycontrolsoftwarevisualizationbioconductormass-spectrometry

4.75 score 1 stars 14 scripts 359 downloads

GRaNIE - GRaNIE: Reconstruction cell type specific gene regulatory networks including enhancers using single-cell or bulk chromatin accessibility and RNA-seq data

Genetic variants associated with diseases often affect non-coding regions, thus likely having a regulatory role. To understand the effects of genetic variants in these regulatory regions, identifying genes that are modulated by specific regulatory elements (REs) is crucial. The effect of gene regulatory elements, such as enhancers, is often cell-type specific, likely because the combinations of transcription factors (TFs) that are regulating a given enhancer have cell-type specific activity. This TF activity can be quantified with existing tools such as diffTF and captures differences in binding of a TF in open chromatin regions. Collectively, this forms a gene regulatory network (GRN) with cell-type and data-specific TF-RE and RE-gene links. Here, we reconstruct such a GRN using single-cell or bulk RNAseq and open chromatin (e.g., using ATACseq or ChIPseq for open chromatin marks) and optionally (Capture) Hi-C data. Our network contains different types of links, connecting TFs to regulatory elements, the latter of which is connected to genes in the vicinity or within the same chromatin domain (TAD). We use a statistical framework to assign empirical FDRs and weights to all links using a permutation-based approach.

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softwaregeneexpressiongeneregulationnetworkinferencegenesetenrichmentbiomedicalinformaticsgeneticstranscriptomicsatacseqrnaseqgraphandnetworkregressiontranscriptionchipseq

4.71 score 17 scripts 326 downloads

RESOLVE - RESOLVE: An R package for the efficient analysis of mutational signatures from cancer genomes

Cancer is a genetic disease caused by somatic mutations in genes controlling key biological functions such as cellular growth and division. Such mutations may arise both through cell-intrinsic and exogenous processes, generating characteristic mutational patterns over the genome named mutational signatures. The study of mutational signatures have become a standard component of modern genomics studies, since it can reveal which (environmental and endogenous) mutagenic processes are active in a tumor, and may highlight markers for therapeutic response. Mutational signatures computational analysis presents many pitfalls. First, the task of determining the number of signatures is very complex and depends on heuristics. Second, several signatures have no clear etiology, casting doubt on them being computational artifacts rather than due to mutagenic processes. Last, approaches for signatures assignment are greatly influenced by the set of signatures used for the analysis. To overcome these limitations, we developed RESOLVE (Robust EStimation Of mutationaL signatures Via rEgularization), a framework that allows the efficient extraction and assignment of mutational signatures. RESOLVE implements a novel algorithm that enables (i) the efficient extraction, (ii) exposure estimation, and (iii) confidence assessment during the computational inference of mutational signatures.

Last updated

biomedicalinformaticssomaticmutation

4.70 score 1 stars 8 scripts 279 downloads

pgen2gds - Format Conversion from PLINK2 PGEN to GDS

Provides functions to convert files from the PLINK2 pgen format to SeqArray GDS.

Last updated

infrastructuredataimportgeneticsgdsplinkcpp

4.60 score 3 scripts 72 downloads

CGRphylo2 - Chaos Game Representation for Phylogenetic Analysis

An alignment-free phylogenetic analysis method for viral genomes using Chaos Game Representation (CGR), a technique based on statistical physics concepts. Viruses exhibit high mutation rates, facilitating rapid evolution and emergence of new species, subspecies, strains, and recombinant forms. Accurate classification is crucial for understanding viral evolution and therapeutic development. Traditional phylogenetic methods require sequence alignment, which is computationally intensive. CGRphylo2 addresses this by implementing CGR-based whole-genome comparison that is fast, accurate, and computationally efficient. The package successfully classifies closely related viral lineages (demonstrated on SARS-CoV-2 lineages A and B), identifies recombinants (such as the XBB variant), and distinguishes multiple strains simultaneously. It processes sequences 5-13.7x faster than alignment-based methods (Clustal-Omega) with linear computational scaling. As a k-mer based approach, it enables simultaneous comparison of numerous closely-related sequences of different lengths. The package creates frequency matrices for distance calculations and phylogenetic tree construction, with outputs compatible with standard formats (MEGA, PHYLIP, Newick). Methods are based on Thind and Sinha (2023) <doi:10.2174/0113892029264990231013112156>.

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phylogeneticsgeneticssequencematchingalignmentclusteringvisualizationsoftwaremultiplesequencealignmentmultiplecomparisonclassification

4.54 score

HiCPotts - HiCPotts: Hierarchical Modeling to Identify and Correct Genomic Biases in Hi-C

The HiCPotts package provides a comprehensive Bayesian framework for analyzing Hi-C interaction data, integrating both spatial and genomic biases within a probabilistic modeling framework. At its core, HiCPotts leverages the Potts model (Wu, 1982)—a well-established graphical model—to capture and quantify spatial dependencies across interaction loci arranged on a genomic lattice. By treating each interaction as a spatially correlated random variable, the Potts model enables robust segmentation of the genomic landscape into meaningful components, such as noise, true signals, and false signals. To model the influence of various genomic biases, HiCPotts employs a regression-based approach incorporating multiple covariates: Genomic distance (D): The distance between interacting loci, recognized as a fundamental driver of contact frequency. GC-content (GC): The local GC composition around the interacting loci, which can influence chromatin structure and interaction patterns. Transposable elements (TEs): The presence and abundance of repetitive elements that may shape contact probability through chromatin organization. Accessibility score (Acc): A measure of chromatin openness, informing how accessible certain genomic regions are to interaction. By embedding these covariates into a hierarchical mixture model, HiCPotts characterizes each interaction’s probability of belonging to one of several latent components. The model parameters, including regression coefficients, zero-inflation parameters (for ZIP/ZINB distributions), and dispersion terms (for NB/ZINB distributions), are inferred via a MCMC sampler. This algorithm draws samples from the joint posterior distribution, allowing for flexible posterior inference on model parameters and hidden states. From these posterior samples, HiCPotts computes posterior means of regression parameters and other quantities of interest. These posterior estimates are then used to calculate the posterior probabilities that assign each interaction to a specific component. The resulting classification sheds light on the underlying structure: distinguishing genuine high-confidence interactions (signal) from background noise and potential false signals, while simultaneously quantifying the impact of genomic biases on observed interaction frequencies. In summary, HiCPotts seamlessly integrates spatial modeling, bias correction, and probabilistic classification into a unified Bayesian inference framework. It provides rich posterior summaries and interpretable, model-based assignments of interaction states, enabling researchers to better understand the interplay between genomic organization, biases, and spatial correlation in Hi-C data.

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statisticalmethodfunctionalgenomicsgenomeannotationgenomewideassociationpeakdetectiondataimportspatialbayesianclassificationhiddenmarkovmodelregressioncpp

4.48 score

MultiOmicsBridge - Integrative Multi-Omics Analysis of Host Transcriptomics and Gut Microbiome Data

MultiOmicsBridge provides an end-to-end, reproducible computational framework for integrative analysis of paired host transcriptomics (bulk RNA-seq) and gut microbiome (16S rRNA or shotgun metagenomics) data. The package addresses the lack of a unified Bioconductor workflow for this pairing by implementing five modules: (1) data harmonization and normalization with CLR transformation for microbiome compositional data and TMM/voom for RNA-seq; (2) joint dimensionality reduction via sparse multi-block PLS-DA (DIABLO); (3) multi-omics biomarker discovery through cross-omics correlation networks and sparse feature loadings; (4) integrated diagnostic classification comparing host-only, microbiome-only, and joint Random Forest models with stratified cross-validation; and (5) publication-quality visualization of integration results, biomarker networks, classifier comparisons, and feature flow diagrams. All functions operate natively on SummarizedExperiment and MultiAssayExperiment objects and return a structured MOBResult S4 object. The package is validated on inflammatory bowel disease multi-omics data and designed with complex disease contexts (tuberculosis, HIV, EED) in mind.

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geneexpressionmetagenomicsclassificationdimensionreductionnormalizationstatisticalmethodsequencingmicrobiometranscriptomicsworkflowstepmultiplecomparisonfeatureextractionnetworkvisualizationqualitycontrol

4.00 score 1 stars 1 downloads

iBMQ - integrated Bayesian Modeling of eQTL data

integrated Bayesian Modeling of eQTL data

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microarraypreprocessinggeneexpressionsnpgslopenmp

3.48 score 1 scripts

barmixR - Bayesian Modeling of Barcoded Tumor Mixtures for Quantitative Treatment Resistance Analysis

Implements the Bayesian modeling framework underlying the barmixR (BARcode MIXture analysis) platform for high-throughput quantitative analysis of genotype-specific treatment responses in pooled cancer cell populations. The package integrates barcode sequencing count data with volumetric measurements such as tumor volume (in vivo) or cellular confluency (in vitro) using hierarchical probabilistic models. Barcode counts are modeled with a Dirichlet–multinomial distribution to account for compositional sequencing data, while volumetric measurements are modeled using log-normal (tumor volume) or beta (confluency) likelihoods. Posterior inference is performed using Hamiltonian Monte Carlo through 'rstan'. The resulting posterior distributions enable estimation of clone-specific quantitative treatment resistance (QTR) together with uncertainty propagation from both sequencing and volumetric data. Additional functions provide posterior predictive checks, estimation of resistance ratios, treatment ranking, and visualization of resistance landscapes using violin plots and bubble heatmaps. The methods are designed for multiplexed lineage-tracing experiments in cancer research and were developed to analyze treatment resistance in gastrointestinal stromal tumors (GIST), but are broadly applicable to barcoding-based studies of treatment response and clonal dynamics across diverse cancer types.

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softwarebayesiansequencingvisualizationbayesian-modelingbioinformaticscancerdna-barcodingdrug-responsegastrointestinal-stromal-tumorhigh-throughput-sequencinglineage-tracingmultiplexed-screeningtreatment-resistancetumor-heterogeneitycpp

3.40 score

minfi - Analyze Illumina Infinium DNA methylation arrays

Tools to analyze & visualize Illumina Infinium methylation arrays.

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immunooncologydnamethylationdifferentialmethylationepigeneticsmicroarraymethylationarraymultichanneltwochanneldataimportnormalizationpreprocessingqualitycontrol

12.69 score 64 stars 34 dependents 2.3k scripts

bumphunter - Bump Hunter

Tools for finding bumps in genomic data

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dnamethylationepigeneticsinfrastructuremultiplecomparisonimmunooncology

11.20 score 18 stars 51 dependents 206 scripts

GenomicScores - Infrastructure to work with genomewide position-specific scores

Provide infrastructure to store and access genomewide position-specific scores within R and Bioconductor.

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infrastructuregeneticsannotationsequencingcoverageannotationhubsoftware

8.78 score 9 stars 6 dependents 106 scripts

ChIPQC - Quality metrics for ChIPseq data

Quality metrics for ChIPseq data.

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sequencingchipseqqualitycontrolreportwriting

6.07 score 237 scripts 828 downloads

ExperimentHubData - Add resources to ExperimentHub

Functions to add metadata to ExperimentHub db and resource files to AWS S3 buckets.

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infrastructuredataimportguithirdpartyclient

3.95 score 1 dependents 7 scripts

SpiecEasi - Sparse Inverse Covariance for Ecological Statistical Inference

Estimate networks from the precision matrix of compositional microbial abundance data.

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softwaremicrobiomemetagenomicsgraphandnetworknetworkinferenceopenblascpp

9.59 score 232 stars 796 scripts 474 downloads

orthogene - Gene mapping made easy

`orthogene` is an R package for easy mapping of orthologous genes across hundreds of species. It pulls up-to-date gene ortholog mappings across **700+ organisms**. It also provides various utility functions to aggregate/expand common objects (e.g. data.frames, gene expression matrices, lists) using **1:1**, **many:1**, **1:many** or **many:many** gene mappings, both within- and between-species.

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geneticscomparativegenomicspreprocessingphylogeneticstranscriptomicsgeneexpressionanimal-modelsbioconductorbioconductor-packagebioinformaticsbiomedicinecomparative-genomicsevolutionary-biologygenesgenomicsontologiestranslational-research

9.20 score 58 stars 3 dependents 93 scripts 1.0k downloads

igvR - igvR: integrative genomics viewer

Access to igv.js, the Integrative Genomics Viewer running in a web browser.

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visualizationthirdpartyclientgenomebrowsers

8.37 score 45 stars 117 scripts

ROTS - Reproducibility-Optimized Test Statistic

Calculates the Reproducibility-Optimized Test Statistic (ROTS) for differential testing in omics data.

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softwaregeneexpressiondifferentialexpressionmicroarrayrnaseqproteomicsimmunooncologycpp

7.08 score 3 dependents 148 scripts

tidybulk - Brings transcriptomics to the tidyverse

This is a collection of utility functions that allow to perform exploration of and calculations to RNA sequencing data, in a modular, pipe-friendly and tidy fashion.

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assaydomaininfrastructurernaseqdifferentialexpressiongeneexpressionnormalizationclusteringqualitycontrolsequencingtranscriptiontranscriptomicsbioconductorbulk-transcriptional-analysesdeseq2differential-expressionedgerensembl-idsentrezgene-symbolsgseamds-dimensionspcapiperedundancytibbletidytidy-datatidyversetranscriptstsne

10.39 score 180 stars 1 dependents 255 scripts

bambu - Context-Aware Transcript Quantification from Long Read RNA-Seq data

bambu is a R package for multi-sample transcript discovery and quantification using long read RNA-Seq data. You can use bambu after read alignment to obtain expression estimates for known and novel transcripts and genes. The output from bambu can directly be used for visualisation and downstream analysis such as differential gene expression or transcript usage.

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alignmentcoveragedifferentialexpressionfeatureextractiongeneexpressiongenomeannotationgenomeassemblyimmunooncologylongreadmultiplecomparisonnormalizationrnaseqregressionsequencingsoftwaretranscriptiontranscriptomicsbambubioconductorlong-readsnanoporenanopore-sequencingrna-seqrna-seq-analysistranscript-quantificationtranscript-reconstructioncpp

9.52 score 247 stars 1 dependents 246 scripts

rrvgo - Reduce + Visualize GO

Reduce and visualize lists of Gene Ontology terms by identifying redudance based on semantic similarity.

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annotationclusteringgonetworkpathwayssoftware

8.81 score 36 stars 1 dependents 395 scripts

systemPipeShiny - systemPipeShiny: An Interactive Framework for Workflow Management and Visualization

systemPipeShiny (SPS) extends the widely used systemPipeR (SPR) workflow environment with a versatile graphical user interface provided by a Shiny App. This allows non-R users, such as experimentalists, to run many systemPipeR’s workflow designs, control, and visualization functionalities interactively without requiring knowledge of R. Most importantly, SPS has been designed as a general purpose framework for interacting with other R packages in an intuitive manner. Like most Shiny Apps, SPS can be used on both local computers as well as centralized server-based deployments that can be accessed remotely as a public web service for using SPR’s functionalities with community and/or private data. The framework can integrate many core packages from the R/Bioconductor ecosystem. Examples of SPS’ current functionalities include: (a) interactive creation of experimental designs and metadata using an easy to use tabular editor or file uploader; (b) visualization of workflow topologies combined with auto-generation of R Markdown preview for interactively designed workflows; (d) access to a wide range of data processing routines; (e) and an extendable set of visualization functionalities. Complex visual results can be managed on a 'Canvas Workbench’ allowing users to organize and to compare plots in an efficient manner combined with a session snapshot feature to continue work at a later time. The present suite of pre-configured visualization examples. The modular design of SPR makes it easy to design custom functions without any knowledge of Shiny, as well as extending the environment in the future with contributions from the community.

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shinyappsinfrastructuredataimportsequencingqualitycontrolreportwritingexperimentaldesignclusteringbioconductorbioconductor-packagedata-visualizationshinysystempiper

7.11 score 36 stars 40 scripts

iSEEu - iSEE Universe

iSEEu (the iSEE universe) contains diverse functionality to extend the usage of the iSEE package, including additional classes for the panels, or modes allowing easy configuration of iSEE applications.

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immunooncologyvisualizationguidimensionreductionfeatureextractionclusteringtranscriptiongeneexpressiontranscriptomicssinglecellcellbasedassayshacktoberfest

6.79 score 9 stars 1 dependents 38 scripts

distinct - distinct: a method for differential analyses via hierarchical permutation tests

distinct is a statistical method to perform differential testing between two or more groups of distributions; differential testing is performed via hierarchical non-parametric permutation tests on the cumulative distribution functions (cdfs) of each sample. While most methods for differential expression target differences in the mean abundance between conditions, distinct, by comparing full cdfs, identifies, both, differential patterns involving changes in the mean, as well as more subtle variations that do not involve the mean (e.g., unimodal vs. bi-modal distributions with the same mean). distinct is a general and flexible tool: due to its fully non-parametric nature, which makes no assumptions on how the data was generated, it can be applied to a variety of datasets. It is particularly suitable to perform differential state analyses on single cell data (i.e., differential analyses within sub-populations of cells), such as single cell RNA sequencing (scRNA-seq) and high-dimensional flow or mass cytometry (HDCyto) data. To use distinct one needs data from two or more groups of samples (i.e., experimental conditions), with at least 2 samples (i.e., biological replicates) per group.

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geneticsrnaseqsequencingdifferentialexpressiongeneexpressionmultiplecomparisonsoftwaretranscriptionstatisticalmethodvisualizationsinglecellflowcytometrygenetargetopenblascpp

6.70 score 13 stars 1 dependents 43 scripts

metaseqR2 - An R package for the analysis and result reporting of RNA-Seq data by combining multiple statistical algorithms

Provides an interface to several normalization and statistical testing packages for RNA-Seq gene expression data. Additionally, it creates several diagnostic plots, performs meta-analysis by combinining the results of several statistical tests and reports the results in an interactive way.

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softwaregeneexpressiondifferentialexpressionworkflowsteppreprocessingqualitycontrolnormalizationreportwritingrnaseqtranscriptionsequencingtranscriptomicsbayesianclusteringcellbiologybiomedicalinformaticsfunctionalgenomicssystemsbiologyimmunooncologyalternativesplicingdifferentialsplicingmultiplecomparisontimecoursedataimportatacseqepigeneticsregressionproprietaryplatformsgenesetenrichmentbatcheffectchipseq

6.38 score 8 stars 9 scripts

MOMA - Multi Omic Master Regulator Analysis

This package implements the inference of candidate master regulator proteins from multi-omics' data (MOMA) algorithm, as well as ancillary analysis and visualization functions.

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softwarenetworkenrichmentnetworkinferencenetworkfeatureextractionclusteringfunctionalgenomicstranscriptomicssystemsbiology

6.23 score 6 stars 14 scripts 369 downloads

DegNorm - DegNorm: degradation normalization for RNA-seq data

This package performs degradation normalization in bulk RNA-seq data to improve differential expression analysis accuracy. It provides estimates for each gene within each sample.

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rnaseqnormalizationgeneexpressionalignmentcoveragedifferentialexpressionbatcheffectsoftwaresequencingimmunooncologyqualitycontroldataimportopenblascppopenmp

5.38 score 2 stars 4 scripts

MEAT - Muscle Epigenetic Age Test

This package estimates epigenetic age in skeletal muscle, using DNA methylation data generated with the Illumina Infinium technology (HM27, HM450 and HMEPIC).

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epigeneticsdnamethylationmicroarraynormalizationbiomedicalinformaticsmethylationarraypreprocessing

5.30 score 1 stars 4 scripts

NoRCE - NoRCE: Noncoding RNA Sets Cis Annotation and Enrichment

While some non-coding RNAs (ncRNAs) are assigned critical regulatory roles, most remain functionally uncharacterized. This presents a challenge whenever an interesting set of ncRNAs needs to be analyzed in a functional context. Transcripts located close-by on the genome are often regulated together. This genomic proximity on the sequence can hint to a functional association. We present a tool, NoRCE, that performs cis enrichment analysis for a given set of ncRNAs. Enrichment is carried out using the functional annotations of the coding genes located proximal to the input ncRNAs. Other biologically relevant information such as topologically associating domain (TAD) boundaries, co-expression patterns, and miRNA target prediction information can be incorporated to conduct a richer enrichment analysis. To this end, NoRCE includes several relevant datasets as part of its data repository, including cell-line specific TAD boundaries, functional gene sets, and expression data for coding & ncRNAs specific to cancer. Additionally, the users can utilize custom data files in their investigation. Enrichment results can be retrieved in a tabular format or visualized in several different ways. NoRCE is currently available for the following species: human, mouse, rat, zebrafish, fruit fly, worm, and yeast.

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biologicalquestiondifferentialexpressiongenomeannotationgenesetenrichmentgenetargetgenomeassemblygo

4.78 score 1 stars 6 scripts

MatrixQCvis - Shiny-based interactive data-quality exploration for omics data

Data quality assessment is an integral part of preparatory data analysis to ensure sound biological information retrieval. We present here the MatrixQCvis package, which provides shiny-based interactive visualization of data quality metrics at the per-sample and per-feature level. It is broadly applicable to quantitative omics data types that come in matrix-like format (features x samples). It enables the detection of low-quality samples, drifts, outliers and batch effects in data sets. Visualizations include amongst others bar- and violin plots of the (count/intensity) values, mean vs standard deviation plots, MA plots, empirical cumulative distribution function (ECDF) plots, visualizations of the distances between samples, and multiple types of dimension reduction plots. Furthermore, MatrixQCvis allows for differential expression analysis based on the limma (moderated t-tests) and proDA (Wald tests) packages. MatrixQCvis builds upon the popular Bioconductor SummarizedExperiment S4 class and enables thus the facile integration into existing workflows. The package is especially tailored towards metabolomics and proteomics mass spectrometry data, but also allows to assess the data quality of other data types that can be represented in a SummarizedExperiment object.

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visualizationshinyappsguiqualitycontroldimensionreductionmetabolomicsproteomicstranscriptomics

4.00 score 10 scripts 348 downloads

GSEAmining - Make Biological Sense of Gene Set Enrichment Analysis Outputs

Gene Set Enrichment Analysis is a very powerful and interesting computational method that allows an easy correlation between differential expressed genes and biological processes. Unfortunately, although it was designed to help researchers to interpret gene expression data it can generate huge amounts of results whose biological meaning can be difficult to interpret. Many available tools rely on the hierarchically structured Gene Ontology (GO) classification to reduce reundandcy in the results. However, due to the popularity of GSEA many more gene set collections, such as those in the Molecular Signatures Database are emerging. Since these collections are not organized as those in GO, their usage for GSEA do not always give a straightforward answer or, in other words, getting all the meaninful information can be challenging with the currently available tools. For these reasons, GSEAmining was born to be an easy tool to create reproducible reports to help researchers make biological sense of GSEA outputs. Given the results of GSEA, GSEAmining clusters the different gene sets collections based on the presence of the same genes in the leadind edge (core) subset. Leading edge subsets are those genes that contribute most to the enrichment score of each collection of genes or gene sets. For this reason, gene sets that participate in similar biological processes should share genes in common and in turn cluster together. After that, GSEAmining is able to identify and represent for each cluster: - The most enriched terms in the names of gene sets (as wordclouds) - The most enriched genes in the leading edge subsets (as bar plots). In each case, positive and negative enrichments are shown in different colors so it is easy to distinguish biological processes or genes that may be of interest in that particular study.

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genesetenrichmentclusteringvisualization

4.00 score 8 scripts

infercnv - Infer Copy Number Variation from Single-Cell RNA-Seq Data

Using single-cell RNA-Seq expression to visualize CNV in cells.

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softwarecopynumbervariationvariantdetectionstructuralvariationgenomicvariationgeneticstranscriptomicsstatisticalmethodbayesianhiddenmarkovmodelsinglecelljagscpp

11.02 score 676 stars 1 dependents 916 scripts

fishpond - Fishpond: downstream methods and tools for expression data

Fishpond contains methods for differential transcript and gene expression analysis of RNA-seq data using inferential replicates for uncertainty of abundance quantification, as generated by Gibbs sampling or bootstrap sampling. Also the package contains a number of utilities for working with Salmon and Alevin quantification files.

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sequencingrnaseqgeneexpressiontranscriptionnormalizationregressionmultiplecomparisonbatcheffectvisualizationdifferentialexpressiondifferentialsplicingalternativesplicingsinglecellbioconductorgene-expressiongenomicssalmonscrnaseqstatisticstranscriptomics

8.12 score 32 stars 258 scripts

mbkmeans - Mini-batch K-means Clustering for Single-Cell RNA-seq

Implements the mini-batch k-means algorithm for large datasets, including support for on-disk data representation.

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clusteringgeneexpressionrnaseqsoftwaretranscriptomicssequencingsinglecellhuman-cell-atlasopenblascpp

8.11 score 13 stars 2 dependents 92 scripts

pathwayPCA - Integrative Pathway Analysis with Modern PCA Methodology and Gene Selection

pathwayPCA is an integrative analysis tool that implements the principal component analysis (PCA) based pathway analysis approaches described in Chen et al. (2008), Chen et al. (2010), and Chen (2011). pathwayPCA allows users to: (1) Test pathway association with binary, continuous, or survival phenotypes. (2) Extract relevant genes in the pathways using the SuperPCA and AES-PCA approaches. (3) Compute principal components (PCs) based on the selected genes. These estimated latent variables represent pathway activities for individual subjects, which can then be used to perform integrative pathway analysis, such as multi-omics analysis. (4) Extract relevant genes that drive pathway significance as well as data corresponding to these relevant genes for additional in-depth analysis. (5) Perform analyses with enhanced computational efficiency with parallel computing and enhanced data safety with S4-class data objects. (6) Analyze studies with complex experimental designs, with multiple covariates, and with interaction effects, e.g., testing whether pathway association with clinical phenotype is different between male and female subjects. Citations: Chen et al. (2008) <https://doi.org/10.1093/bioinformatics/btn458>; Chen et al. (2010) <https://doi.org/10.1002/gepi.20532>; and Chen (2011) <https://doi.org/10.2202/1544-6115.1697>.

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copynumbervariationdnamethylationgeneexpressionsnptranscriptiongenepredictiongenesetenrichmentgenesignalinggenetargetgenomewideassociationgenomicvariationcellbiologyepigeneticsfunctionalgenomicsgeneticslipidomicsmetabolomicsproteomicssystemsbiologytranscriptomicsclassificationdimensionreductionfeatureextractionprincipalcomponentregressionsurvivalmultiplecomparisonpathways

7.75 score 11 stars 43 scripts

netSmooth - Network smoothing for scRNAseq

netSmooth is an R package for network smoothing of single cell RNA sequencing data. Using bio networks such as protein-protein interactions as priors for gene co-expression, netsmooth improves cell type identification from noisy, sparse scRNAseq data.

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networkgraphandnetworksinglecellrnaseqgeneexpressionsequencingtranscriptomicsnormalizationpreprocessingclusteringdimensionreductionbioinformaticsgenomicssingle-cell

7.44 score 29 stars 5 scripts

vidger - Create rapid visualizations of RNAseq data in R

The aim of vidger is to rapidly generate information-rich visualizations for the interpretation of differential gene expression results from three widely-used tools: Cuffdiff, DESeq2, and edgeR.

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immunooncologyvisualizationrnaseqdifferentialexpressiongeneexpressiondata-mungingdifferential-expressiongene-expressionrna-seq-analysis

6.92 score 20 stars 35 scripts

gwasurvivr - gwasurvivr: an R package for genome wide survival analysis

gwasurvivr is a package to perform survival analysis using Cox proportional hazard models on imputed genetic data.

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genomewideassociationsurvivalregressiongeneticssnpgeneticvariabilitypharmacogenomicsbiomedicalinformatics

6.54 score 13 stars 88 scripts 426 downloads

atSNP - Affinity test for identifying regulatory SNPs

atSNP performs affinity tests of motif matches with the SNP or the reference genomes and SNP-led changes in motif matches.

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softwarechipseqgenomeannotationmotifannotationvisualizationcpp

6.12 score 2 stars 44 scripts 454 downloads

ViSEAGO - ViSEAGO: a Bioconductor package for clustering biological functions using Gene Ontology and semantic similarity

The main objective of ViSEAGO package is to carry out a data mining of biological functions and establish links between genes involved in the study. We developed ViSEAGO in R to facilitate functional Gene Ontology (GO) analysis of complex experimental design with multiple comparisons of interest. It allows to study large-scale datasets together and visualize GO profiles to capture biological knowledge. The acronym stands for three major concepts of the analysis: Visualization, Semantic similarity and Enrichment Analysis of Gene Ontology. It provides access to the last current GO annotations, which are retrieved from one of NCBI EntrezGene, Ensembl or Uniprot databases for several species. Using available R packages and novel developments, ViSEAGO extends classical functional GO analysis to focus on functional coherence by aggregating closely related biological themes while studying multiple datasets at once. It provides both a synthetic and detailed view using interactive functionalities respecting the GO graph structure and ensuring functional coherence supplied by semantic similarity. ViSEAGO has been successfully applied on several datasets from different species with a variety of biological questions. Results can be easily shared between bioinformaticians and biologists, enhancing reporting capabilities while maintaining reproducibility.

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softwareannotationgogenesetenrichmentmultiplecomparisonclusteringvisualization

6.08 score 30 scripts 361 downloads

CopyNumberPlots - Create Copy-Number Plots using karyoploteR functionality

CopyNumberPlots have a set of functions extending karyoploteRs functionality to create beautiful, customizable and flexible plots of copy-number related data.

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visualizationcopynumbervariationcoverageonechanneldataimportsequencingdnaseqbioconductorbioconductor-packagebioinformaticscopy-number-variationgenomicsgenomics-visualization

6.07 score 6 stars 1 dependents 22 scripts

OmaDB - R wrapper for the OMA REST API

A package for the orthology prediction data download from OMA database.

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softwarecomparativegenomicsfunctionalgenomicsgeneticsannotationgofunctionalprediction

6.05 score 2 stars 5 scripts

IgGeneUsage - Differential gene usage in immune repertoires

Detection of biases in the usage of immunoglobulin (Ig) genes is an important task in immune repertoire profiling. IgGeneUsage detects aberrant Ig gene usage between biological conditions using a probabilistic model which is analyzed computationally by Bayes inference. With this IgGeneUsage also avoids some common problems related to the current practice of null-hypothesis significance testing.

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differentialexpressionregressiongeneticsbayesianbiomedicalinformaticsimmunooncologymathematicalbiologyb-cell-receptorbcr-repertoiredifferential-analysisdifferential-gene-expressionhigh-throughput-sequencingimmune-repertoireimmune-repertoire-analysisimmune-repertoiresimmunogenomicsimmunoglobulinimmunoinformaticsimmunological-bioinformaticsimmunologytcr-repertoirevdj-recombinationcpp

5.38 score 6 stars 1 scripts

RcwlPipelines - Bioinformatics pipelines based on Rcwl

A collection of Bioinformatics tools and pipelines based on R and the Common Workflow Language.

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softwareworkflowstepalignmentpreprocessingqualitycontroldnaseqrnaseqdataimportimmunooncology

5.18 score 1 dependents 34 scripts

MBQN - Mean/Median-balanced quantile normalization

Modified quantile normalization for omics or other matrix-like data distorted in location and scale.

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normalizationpreprocessingproteomicssoftware

5.12 score 2 stars 22 scripts 370 downloads

qPLEXanalyzer - Tools for quantitative proteomics data analysis

Tools for TMT based quantitative proteomics data analysis.

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immunooncologyproteomicsmassspectrometrynormalizationpreprocessingqualitycontroldataimport

5.08 score 1 stars 10 scripts

tRNAscanImport - Importing a tRNAscan-SE result file as GRanges object

The package imports the result of tRNAscan-SE as a GRanges object.

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softwaredataimportworkflowsteppreprocessingvisualizationbioconductorsequencesstructurestrnatrnascantrnascan-se

5.08 score 2 stars 5 scripts

MetID - Network-based prioritization of putative metabolite IDs

This package uses an innovative network-based approach that will enhance our ability to determine the identities of significant ions detected by LC-MS.

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assaydomainbiologicalquestioninfrastructureresearchfieldstatisticalmethodtechnologyworkflowstepnetworkkegg

4.77 score 1 stars 117 scripts 375 downloads

brendaDb - The BRENDA Enzyme Database

R interface for importing and analyzing enzyme information from the BRENDA database.

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thirdpartyclientannotationdataimportbrendadatabaseenzymehacktoberfestcpp

4.60 score 2 stars 9 scripts 366 downloads

iCNV - Integrated Copy Number Variation detection

Integrative copy number variation (CNV) detection from multiple platform and experimental design.

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immunooncologyexomeseqwholegenomesnpcopynumbervariationhiddenmarkovmodel

4.30 score 6 scripts

SCANVIS - SCANVIS - a tool for SCoring, ANnotating and VISualizing splice junctions

SCANVIS is a set of annotation-dependent tools for analyzing splice junctions and their read support as predetermined by an alignment tool of choice (for example, STAR aligner). SCANVIS assesses each junction's relative read support (RRS) by relating to the context of local split reads aligning to annotated transcripts. SCANVIS also annotates each splice junction by indicating whether the junction is supported by annotation or not, and if not, what type of junction it is (e.g. exon skipping, alternative 5' or 3' events, Novel Exons). Unannotated junctions are also futher annotated by indicating whether it induces a frame shift or not. SCANVIS includes a visualization function to generate static sashimi-style plots depicting relative read support and number of split reads using arc thickness and arc heights, making it easy for users to spot well-supported junctions. These plots also clearly delineate unannotated junctions from annotated ones using designated color schemes, and users can also highlight splice junctions of choice. Variants and/or a read profile are also incoroporated into the plot if the user supplies variants in bed format and/or the BAM file. One further feature of the visualization function is that users can submit multiple samples of a certain disease or cohort to generate a single plot - this occurs via a "merge" function wherein junction details over multiple samples are merged to generate a single sashimi plot, which is useful when contrasting cohorots (eg. disease vs control).

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softwareresearchfieldtranscriptomicsworkflowstepannotationvisualization

4.00 score 4 scripts 350 downloads

DEScan2 - Differential Enrichment Scan 2

Integrated peak and differential caller, specifically designed for broad epigenomic signals.

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immunooncologypeakdetectionepigeneticssoftwaresequencingcoveragecpp

3.48 score 4 scripts

mixOmics - Omics Data Integration Project

Multivariate methods are well suited to large omics data sets where the number of variables (e.g. genes, proteins, metabolites) is much larger than the number of samples (patients, cells, mice). They have the appealing properties of reducing the dimension of the data by using instrumental variables (components), which are defined as combinations of all variables. Those components are then used to produce useful graphical outputs that enable better understanding of the relationships and correlation structures between the different data sets that are integrated. mixOmics offers a wide range of multivariate methods for the exploration and integration of biological datasets with a particular focus on variable selection. The package proposes several sparse multivariate models we have developed to identify the key variables that are highly correlated, and/or explain the biological outcome of interest. The data that can be analysed with mixOmics may come from high throughput sequencing technologies, such as omics data (transcriptomics, metabolomics, proteomics, metagenomics etc) but also beyond the realm of omics (e.g. spectral imaging). The methods implemented in mixOmics can also handle missing values without having to delete entire rows with missing data. A non exhaustive list of methods include variants of generalised Canonical Correlation Analysis, sparse Partial Least Squares and sparse Discriminant Analysis. Recently we implemented integrative methods to combine multiple data sets: N-integration with variants of Generalised Canonical Correlation Analysis and P-integration with variants of multi-group Partial Least Squares.

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immunooncologymicroarraysequencingmetabolomicsmetagenomicsproteomicsgenepredictionmultiplecomparisonclassificationregressionbioconductorgenomicsgenomics-datagenomics-visualizationmultivariate-analysismultivariate-statisticsomicsr-pkgr-project

12.93 score 256 stars 26 dependents 2.2k scripts

artMS - Analytical R tools for Mass Spectrometry

artMS provides a set of tools for the analysis of proteomics label-free datasets. It takes as input the MaxQuant search result output (evidence.txt file) and performs quality control, relative quantification using MSstats, downstream analysis and integration. artMS also provides a set of functions to re-format and make it compatible with other analytical tools, including, SAINTq, SAINTexpress, Phosfate, and PHOTON. Check [http://artms.org](http://artms.org) for details.

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proteomicsdifferentialexpressionbiomedicalinformaticssystemsbiologymassspectrometryannotationqualitycontrolgenesetenrichmentclusteringnormalizationimmunooncologymultiplecomparisonanalysisanalyticalap-msbioconductorbioinformaticsmass-spectrometryphosphoproteomicspost-translational-modificationquantitative-analysis

6.61 score 14 stars 21 scripts

bayNorm - Single-cell RNA sequencing data normalization

bayNorm is used for normalizing single-cell RNA-seq data.

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immunooncologynormalizationrnaseqsinglecellsequencingscrnaseqcppopenmp

6.55 score 10 stars 39 scripts

tRNAdbImport - Importing from tRNAdb and mitotRNAdb as GRanges objects

tRNAdbImport imports the entries of the tRNAdb and mtRNAdb (http://trna.bioinf.uni-leipzig.de) as GRanges object.

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softwarevisualizationdataimportbioconductorsequencesstructurestrnatrna-genestrna-sequencestrnadb

4.95 score 1 stars 1 dependents 3 scripts

maftools - Summarize, Analyze and Visualize MAF Files

Analyze and visualize Mutation Annotation Format (MAF) files from large scale sequencing studies. This package provides various functions to perform most commonly used analyses in cancer genomics and to create feature rich customizable visualzations with minimal effort.

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datarepresentationdnaseqvisualizationdrivermutationvariantannotationfeatureextractionclassificationsomaticmutationsequencingfunctionalgenomicssurvivalbioinformaticscancer-genome-atlascancer-genomicsgenomicsmaf-filestcgacurlbzip2xz-utilszlib

14.01 score 495 stars 12 dependents 1.6k scripts 4.2k downloads

MAST - Model-based Analysis of Single Cell Transcriptomics

Methods and models for handling zero-inflated single cell assay data.

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geneexpressiondifferentialexpressiongenesetenrichmentrnaseqtranscriptomicssinglecell

12.69 score 265 stars 6 dependents 2.5k scripts

GenomicDataCommons - NIH / NCI Genomic Data Commons Access

Programmatically access the NIH / NCI Genomic Data Commons RESTful service.

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dataimportsequencingapi-clientbioconductorbioinformaticscancercore-servicesdata-sciencegenomicsncitcgavignette

11.67 score 90 stars 13 dependents 291 scripts 2.1k downloads

Rhdf5lib - hdf5 library as an R package

Provides C and C++ hdf5 libraries.

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infrastructurebioconductorhdf5hdf5-library

9.84 score 7 stars 347 dependents 29 scripts

pcaExplorer - Interactive Visualization of RNA-seq Data Using a Principal Components Approach

This package provides functionality for interactive visualization of RNA-seq datasets based on Principal Components Analysis. The methods provided allow for quick information extraction and effective data exploration. A Shiny application encapsulates the whole analysis.

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immunooncologyvisualizationrnaseqdimensionreductionprincipalcomponentqualitycontrolguireportwritingshinyappsbioconductorprincipal-componentsreproducible-researchrna-seq-analysisrna-seq-datashinytranscriptomeuser-friendly

9.24 score 56 stars 220 scripts

IsoformSwitchAnalyzeR - Identify, Annotate and Visualize Isoform Switches with Functional Consequences from both short- and long-read RNA-seq data

Analysis of alternative splicing and isoform switches with predicted functional consequences (e.g. gain/loss of protein domains etc.) from quantification of all types of RNA-seq (short/long) by tools such as Kallisto, Salmon, StringTie, Tallon, IsoQuant etc.

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geneexpressiontranscriptionalternativesplicingdifferentialexpressiondifferentialsplicingvisualizationstatisticalmethodtranscriptomevariantbiomedicalinformaticsfunctionalgenomicssystemsbiologytranscriptomicsrnaseqannotationfunctionalpredictiongenepredictiondataimportmultiplecomparisonbatcheffectimmunooncology

9.07 score 133 stars 405 scripts

scone - Single Cell Overview of Normalized Expression data

SCONE is an R package for comparing and ranking the performance of different normalization schemes for single-cell RNA-seq and other high-throughput analyses.

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immunooncologynormalizationpreprocessingqualitycontrolgeneexpressionrnaseqsoftwaretranscriptomicssequencingsinglecellcoverage

8.86 score 55 stars 109 scripts

dupRadar - Assessment of duplication rates in RNA-Seq datasets

Duplication rate quality control for RNA-Seq datasets.

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technologysequencingrnaseqqualitycontrolimmunooncology

7.49 score 3 stars 86 scripts

GENIE3 - GEne Network Inference with Ensemble of trees

This package implements the GENIE3 algorithm for inferring gene regulatory networks from expression data.

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networkinferencesystemsbiologydecisiontreeregressionnetworkgraphandnetworkgeneexpression

7.45 score 4 dependents 235 scripts

sevenbridges - Seven Bridges Platform API Client and Common Workflow Language Tool Builder in R

R client and utilities for Seven Bridges platform API, from Cancer Genomics Cloud to other Seven Bridges supported platforms.

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softwaredataimportthirdpartyclientapi-clientbioconductorbioinformaticscloudcommon-workflow-languagesevenbridges

7.44 score 37 stars 25 scripts

ropls - PCA, PLS(-DA) and OPLS(-DA) for multivariate analysis and feature selection of omics data

Latent variable modeling with Principal Component Analysis (PCA) and Partial Least Squares (PLS) are powerful methods for visualization, regression, classification, and feature selection of omics data where the number of variables exceeds the number of samples and with multicollinearity among variables. Orthogonal Partial Least Squares (OPLS) enables to separately model the variation correlated (predictive) to the factor of interest and the uncorrelated (orthogonal) variation. While performing similarly to PLS, OPLS facilitates interpretation. Successful applications of these chemometrics techniques include spectroscopic data such as Raman spectroscopy, nuclear magnetic resonance (NMR), mass spectrometry (MS) in metabolomics and proteomics, but also transcriptomics data. In addition to scores, loadings and weights plots, the package provides metrics and graphics to determine the optimal number of components (e.g. with the R2 and Q2 coefficients), check the validity of the model by permutation testing, detect outliers, and perform feature selection (e.g. with Variable Importance in Projection or regression coefficients). The package can be accessed via a user interface on the Workflow4Metabolomics.org online resource for computational metabolomics (built upon the Galaxy environment).

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regressionclassificationprincipalcomponenttranscriptomicsproteomicsmetabolomicslipidomicsmassspectrometryimmunooncology

7.15 score 8 dependents 294 scripts

isomiRs - Analyze isomiRs and miRNAs from small RNA-seq

Characterization of miRNAs and isomiRs, clustering and differential expression.

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mirnarnaseqdifferentialexpressionclusteringimmunooncologyanalyze-isomirsbioconductorisomirs

7.02 score 8 stars 36 scripts

DEFormats - Differential gene expression data formats converter

Convert between different data formats used by differential gene expression analysis tools.

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immunooncologydifferentialexpressiongeneexpressionrnaseqsequencingtranscription

6.87 score 4 stars 1 dependents 89 scripts

DiffLogo - DiffLogo: A comparative visualisation of biooligomer motifs

DiffLogo is an easy-to-use tool to visualize motif differences.

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softwaresequencematchingmultiplecomparisonmotifannotationvisualizationalignment

6.86 score 7 stars 49 scripts

BioCor - Functional Similarities

Calculates functional similarities based on the pathways described on KEGG and REACTOME or in gene sets. These similarities can be calculated for pathways or gene sets, genes, or clusters and combined with other similarities. They can be used to improve networks, gene selection, testing relationships...

Last updated

statisticalmethodclusteringgeneexpressionnetworkpathwaysnetworkenrichmentsystemsbiologybioconductor-packagesbioinformaticsfunctional-similaritygenegene-setspathway-analysissimilaritysimilarity-measurement

6.69 score 14 stars 2 scripts

MoonlightR - Identify oncogenes and tumor suppressor genes from omics data

Motivation: The understanding of cancer mechanism requires the identification of genes playing a role in the development of the pathology and the characterization of their role (notably oncogenes and tumor suppressors). Results: We present an R/bioconductor package called MoonlightR which returns a list of candidate driver genes for specific cancer types on the basis of TCGA expression data. The method first infers gene regulatory networks and then carries out a functional enrichment analysis (FEA) (implementing an upstream regulator analysis, URA) to score the importance of well-known biological processes with respect to the studied cancer type. Eventually, by means of random forests, MoonlightR predicts two specific roles for the candidate driver genes: i) tumor suppressor genes (TSGs) and ii) oncogenes (OCGs). As a consequence, this methodology does not only identify genes playing a dual role (e.g. TSG in one cancer type and OCG in another) but also helps in elucidating the biological processes underlying their specific roles. In particular, MoonlightR can be used to discover OCGs and TSGs in the same cancer type. This may help in answering the question whether some genes change role between early stages (I, II) and late stages (III, IV) in breast cancer. In the future, this analysis could be useful to determine the causes of different resistances to chemotherapeutic treatments.

Last updated

dnamethylationdifferentialmethylationgeneregulationgeneexpressionmethylationarraydifferentialexpressionpathwaysnetworksurvivalgenesetenrichmentnetworkenrichment

6.57 score 17 stars

switchde - Switch-like differential expression across single-cell trajectories

Inference and detection of switch-like differential expression across single-cell RNA-seq trajectories.

Last updated

immunooncologysoftwaretranscriptomicsgeneexpressionrnaseqregressiondifferentialexpressionsinglecellgene-expressiongenomicssingle-cell

6.04 score 22 stars 10 scripts 401 downloads

statTarget - Statistical Analysis of Molecular Profiles

A streamlined tool provides a graphical user interface for quality control based signal drift correction (QC-RFSC), integration of data from multi-batch MS-based experiments, and the comprehensive statistical analysis in metabolomics and proteomics.

Last updated

immunooncologymetabolomicsproteomicsmachine learninglipidomicsmassspectrometryqualitycontrolnormalizationqc-rfsccombatdifferentialexpressionbatcheffectvisualizationmultiplecomparisonpreprocessingsoftware

6.01 score 86 scripts

EGSEA - Ensemble of Gene Set Enrichment Analyses

This package implements the Ensemble of Gene Set Enrichment Analyses (EGSEA) method for gene set testing. EGSEA algorithm utilizes the analysis results of twelve prominent GSE algorithms in the literature to calculate collective significance scores for each gene set.

Last updated

immunooncologydifferentialexpressiongogeneexpressiongenesetenrichmentgeneticsmicroarraymultiplecomparisononechannelpathwaysrnaseqsequencingsoftwaresystemsbiologytwochannelmetabolomicsproteomicskegggraphandnetworkgenesignalinggenetargetnetworkenrichmentnetworkclassification

5.94 score 88 scripts

bioCancer - Interactive Multi-Omics Cancers Data Visualization and Analysis

This package is a Shiny App to visualize and analyse interactively Multi-Assays of Cancer Genomic Data.

Last updated

guidatarepresentationnetworkmultiplecomparisonpathwaysreactomevisualizationgeneexpressiongenetargetanalysisbiocancer-interfacecancercancer-studiesrmarkdown

5.80 score 21 stars 8 scripts

GEM - GEM: fast association study for the interplay of Gene, Environment and Methylation

Tools for analyzing EWAS, methQTL and GxE genome widely.

Last updated

methylseqmethylationarraygenomewideassociationregressiondnamethylationsnpgeneexpressiongui

5.49 score 31 scripts 364 downloads

bigmelon - Illumina methylation array analysis for large experiments

Methods for working with Illumina arrays using gdsfmt.

Last updated

dnamethylationmicroarraytwochannelpreprocessingqualitycontrolmethylationarraydataimportcpgisland

5.41 score 37 scripts

epivizrData - Data Management API for epiviz interactive visualization app

Serve data from Bioconductor Objects through a WebSocket connection.

Last updated

infrastructurevisualization

5.26 score 1 stars 4 dependents 6 scripts 379 downloads

ASpli - Analysis of Alternative Splicing Using RNA-Seq

Integrative pipeline for the analysis of alternative splicing using RNAseq.

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immunooncologygeneexpressiontranscriptionalternativesplicingcoveragedifferentialexpressiondifferentialsplicingtimecoursernaseqgenomeannotationsequencingalignment

5.10 score 1 dependents 53 scripts

methInheritSim - Simulating Whole-Genome Inherited Bisulphite Sequencing Data

Simulate a multigeneration methylation case versus control experiment with inheritance relation using a real control dataset.

Last updated

biologicalquestionepigeneticsdnamethylationdifferentialmethylationmethylseqsoftwareimmunooncologystatisticalmethodwholegenomesequencingbisulphite-sequencinginheritancemethylationsimulation

5.08 score 2 stars 2 scripts

EGAD - Extending guilt by association by degree

The package implements a series of highly efficient tools to calculate functional properties of networks based on guilt by association methods.

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softwarefunctionalgenomicssystemsbiologygenepredictionfunctionalpredictionnetworkenrichmentgraphandnetworknetwork

4.98 score 95 scripts 408 downloads

GRmetrics - Calculate growth-rate inhibition (GR) metrics

Functions for calculating and visualizing growth-rate inhibition (GR) metrics.

Last updated

immunooncologycellbasedassayscellbiologysoftwaretimecoursevisualization

4.90 score 1 stars 20 scripts

mimager - mimager: The Microarray Imager

Easily visualize and inspect microarrays for spatial artifacts.

Last updated

infrastructurevisualizationmicroarraybioconductorbioinformatics

4.70 score 3 scripts

msgbsR - msgbsR: methylation sensitive genotyping by sequencing (MS-GBS) R functions

Pipeline for the anaysis of a MS-GBS experiment.

Last updated

immunooncologydifferentialmethylationdataimportepigeneticsmethylseq

4.65 score 2 scripts

RJMCMCNucleosomes - Bayesian hierarchical model for genome-wide nucleosome positioning with high-throughput short-read data (MNase-Seq)

This package does nucleosome positioning using informative Multinomial-Dirichlet prior in a t-mixture with reversible jump estimation of nucleosome positions for genome-wide profiling.

Last updated

biologicalquestionchipseqnucleosomepositioningsoftwarestatisticalmethodbayesiansequencingcoveragebayesian-t-mixturebioconductorc-plus-plusgenome-wide-profilingmultinomial-dirichlet-priornucleosome-positioningnucleosomesreversible-jump-mcmcgslcpp

4.60 score 3 scripts 420 downloads

GeneBreak - Gene Break Detection

Recurrent breakpoint gene detection on copy number aberration profiles.

Last updated

acghcopynumbervariationdnaseqgeneticssequencingwholegenomevisualization

4.60 score 2 stars 7 scripts

goSTAG - A tool to use GO Subtrees to Tag and Annotate Genes within a set

Gene lists derived from the results of genomic analyses are rich in biological information. For instance, differentially expressed genes (DEGs) from a microarray or RNA-Seq analysis are related functionally in terms of their response to a treatment or condition. Gene lists can vary in size, up to several thousand genes, depending on the robustness of the perturbations or how widely different the conditions are biologically. Having a way to associate biological relatedness between hundreds and thousands of genes systematically is impractical by manually curating the annotation and function of each gene. Over-representation analysis (ORA) of genes was developed to identify biological themes. Given a Gene Ontology (GO) and an annotation of genes that indicate the categories each one fits into, significance of the over-representation of the genes within the ontological categories is determined by a Fisher's exact test or modeling according to a hypergeometric distribution. Comparing a small number of enriched biological categories for a few samples is manageable using Venn diagrams or other means for assessing overlaps. However, with hundreds of enriched categories and many samples, the comparisons are laborious. Furthermore, if there are enriched categories that are shared between samples, trying to represent a common theme across them is highly subjective. goSTAG uses GO subtrees to tag and annotate genes within a set. goSTAG visualizes the similarities between the over-representation of DEGs by clustering the p-values from the enrichment statistical tests and labels clusters with the GO term that has the most paths to the root within the subtree generated from all the GO terms in the cluster.

Last updated

geneexpressiondifferentialexpressiongenesetenrichmentclusteringmicroarraymrnamicroarrayrnaseqvisualizationgoimmunooncology

4.30 score 3 scripts 457 downloads

IntEREst - Intron-Exon Retention Estimator

This package performs Intron-Exon Retention analysis on RNA-seq data (.bam files).

Last updated

softwarealternativesplicingcoveragedifferentialsplicingsequencingrnaseqalignmentnormalizationdifferentialexpressionimmunooncology

4.28 score 24 scripts 470 downloads

GAprediction - Prediction of gestational age with Illumina HumanMethylation450 data

[GAprediction] predicts gestational age using Illumina HumanMethylation450 CpG data.

Last updated

immunooncologydnamethylationepigeneticsregressionbiomedicalinformatics

4.00 score 2 scripts 328 downloads

iCheck - QC Pipeline and Data Analysis Tools for High-Dimensional Illumina mRNA Expression Data

QC pipeline and data analysis tools for high-dimensional Illumina mRNA expression data.

Last updated

geneexpressiondifferentialexpressionmicroarraypreprocessingdnamethylationonechanneltwochannelqualitycontrol

4.00 score 2 scripts 359 downloads

CONFESS - Cell OrderiNg by FluorEScence Signal

Single Cell Fluidigm Spot Detector.

Last updated

immunooncologygeneexpressiondataimportcellbiologyclusteringrnaseqqualitycontrolvisualizationtimecourseregressionclassification

3.90 score 9 scripts 420 downloads

SNPhood - SNPhood: Investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data

To date, thousands of single nucleotide polymorphisms (SNPs) have been found to be associated with complex traits and diseases. However, the vast majority of these disease-associated SNPs lie in the non-coding part of the genome, and are likely to affect regulatory elements, such as enhancers and promoters, rather than function of a protein. Thus, to understand the molecular mechanisms underlying genetic traits and diseases, it becomes increasingly important to study the effect of a SNP on nearby molecular traits such as chromatin environment or transcription factor (TF) binding. Towards this aim, we developed SNPhood, a user-friendly *Bioconductor* R package to investigate and visualize the local neighborhood of a set of SNPs of interest for NGS data such as chromatin marks or transcription factor binding sites from ChIP-Seq or RNA- Seq experiments. SNPhood comprises a set of easy-to-use functions to extract, normalize and summarize reads for a genomic region, perform various data quality checks, normalize read counts using additional input files, and to cluster and visualize the regions according to the binding pattern. The regions around each SNP can be binned in a user-defined fashion to allow for analysis of very broad patterns as well as a detailed investigation of specific binding shapes. Furthermore, SNPhood supports the integration with genotype information to investigate and visualize genotype-specific binding patterns. Finally, SNPhood can be employed for determining, investigating, and visualizing allele-specific binding patterns around the SNPs of interest.

Last updated

software

3.90 score 2 scripts

MGFR - Marker Gene Finder in RNA-seq data

The package is designed to detect marker genes from RNA-seq data.

Last updated

immunooncologygeneticsgeneexpressionrnaseq

3.78 score 1 dependents 4 scripts

iGC - An integrated analysis package of Gene expression and Copy number alteration

This package is intended to identify differentially expressed genes driven by Copy Number Alterations from samples with both gene expression and CNA data.

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softwarebiological questiondifferentialexpressiongenomicvariationassaydomaincopynumbervariationgeneexpressionresearchfieldgeneticstechnologymicroarraysequencingworkflowstepmultiplecomparison

3.78 score 1 stars 2 scripts

ChIPexoQual - ChIPexoQual

Package with a quality control pipeline for ChIP-exo/nexus data.

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chipseqsequencingtranscriptionvisualizationqualitycontrolcoveragealignment

3.30 score 1 stars 6 scripts

sscu - Strength of Selected Codon Usage

The package calculates the indexes for selective stength in codon usage in bacteria species. (1) The package can calculate the strength of selected codon usage bias (sscu, also named as s_index) based on Paul Sharp's method. The method take into account of background mutation rate, and focus only on four pairs of codons with universal translational advantages in all bacterial species. Thus the sscu index is comparable among different species. (2) The package can detect the strength of translational accuracy selection by Akashi's test. The test tabulating all codons into four categories with the feature as conserved/variable amino acids and optimal/non-optimal codons. (3) Optimal codon lists (selected codons) can be calculated by either op_highly function (by using the highly expressed genes compared with all genes to identify optimal codons), or op_corre_CodonW/op_corre_NCprime function (by correlative method developed by Hershberg & Petrov). Users will have a list of optimal codons for further analysis, such as input to the Akashi's test. (4) The detailed codon usage information, such as RSCU value, number of optimal codons in the highly/all gene set, as well as the genomic gc3 value, can be calculate by the optimal_codon_statistics and genomic_gc3 function. (5) Furthermore, we added one test function low_frequency_op in the package. The function try to find the low frequency optimal codons, among all the optimal codons identified by the op_highly function.

Last updated

geneticsgeneexpressionwholegenome

2.30 score 4 scripts

ISoLDE - Integrative Statistics of alleLe Dependent Expression

This package provides ISoLDE a new method for identifying imprinted genes. This method is dedicated to data arising from RNA sequencing technologies. The ISoLDE package implements original statistical methodology described in the publication below.

Last updated

immunooncologygeneexpressiontranscriptiongenesetenrichmentgeneticssequencingrnaseqmultiplecomparisonsnpgeneticvariabilityepigeneticsmathematicalbiologygeneregulationopenmp

2.30 score 7 scripts 346 downloads

GenVisR - Genomic Visualizations in R

Produce highly customizable publication quality graphics for genomic data primarily at the cohort level.

Last updated

infrastructuredatarepresentationclassificationdnaseq

10.21 score 225 stars 97 scripts

SC3 - Single-Cell Consensus Clustering

A tool for unsupervised clustering and analysis of single cell RNA-Seq data.

Last updated

immunooncologysinglecellsoftwareclassificationclusteringdimensionreductionsupportvectormachinernaseqvisualizationtranscriptomicsdatarepresentationguidifferentialexpressiontranscriptionbioconductor-packagehuman-cell-atlassingle-cell-rna-seqopenblascpp

10.18 score 129 stars 1 dependents 437 scripts

subSeq - Subsampling of high-throughput sequencing count data

Subsampling of high throughput sequencing count data for use in experiment design and analysis.

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immunooncologysequencingtranscriptionrnaseqgeneexpressiondifferentialexpression

6.54 score 20 stars 29 scripts

Chicago - CHiCAGO: Capture Hi-C Analysis of Genomic Organization

A pipeline for analysing Capture Hi-C data.

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epigeneticshicsequencingsoftware

5.47 score 1 dependents 49 scripts 528 downloads

globalSeq - Global Test for Counts

The method may be conceptualised as a test of overall significance in regression analysis, where the response variable is overdispersed and the number of explanatory variables exceeds the sample size. Useful for testing for association between RNA-Seq and high-dimensional data.

Last updated

geneexpressionexonarraydifferentialexpressiongenomewideassociationtranscriptomicsdimensionreductionregressionsequencingwholegenomernaseqexomeseqmirnamultiplecomparison

5.32 score 1 stars 4 scripts 355 downloads

cellity - Quality Control for Single-Cell RNA-seq Data

A support vector machine approach to identifying and filtering low quality cells from single-cell RNA-seq datasets.

Last updated

immunooncologyrnaseqqualitycontrolpreprocessingnormalizationvisualizationdimensionreductiontranscriptomicsgeneexpressionsequencingsoftwaresupportvectormachine

4.00 score 10 scripts

transcriptR - An Integrative Tool for ChIP- And RNA-Seq Based Primary Transcripts Detection and Quantification

The differences in the RNA types being sequenced have an impact on the resulting sequencing profiles. mRNA-seq data is enriched with reads derived from exons, while GRO-, nucRNA- and chrRNA-seq demonstrate a substantial broader coverage of both exonic and intronic regions. The presence of intronic reads in GRO-seq type of data makes it possible to use it to computationally identify and quantify all de novo continuous regions of transcription distributed across the genome. This type of data, however, is more challenging to interpret and less common practice compared to mRNA-seq. One of the challenges for primary transcript detection concerns the simultaneous transcription of closely spaced genes, which needs to be properly divided into individually transcribed units. The R package transcriptR combines RNA-seq data with ChIP-seq data of histone modifications that mark active Transcription Start Sites (TSSs), such as, H3K4me3 or H3K9/14Ac to overcome this challenge. The advantage of this approach over the use of, for example, gene annotations is that this approach is data driven and therefore able to deal also with novel and case specific events. Furthermore, the integration of ChIP- and RNA-seq data allows the identification all known and novel active transcription start sites within a given sample.

Last updated

immunooncologytranscriptionsoftwaresequencingrnaseqcoverage

3.48 score 3 scripts

profileScoreDist - Profile score distributions

Regularization and score distributions for position count matrices.

Last updated

softwaregeneregulationstatisticalmethodcpp

3.30 score 6 scripts 315 downloads

ggtree - an R package for visualization of tree and annotation data

'ggtree' extends the 'ggplot2' plotting system which implemented the grammar of graphics. 'ggtree' is designed for visualization and annotation of phylogenetic trees and other tree-like structures with their annotation data.

Last updated

alignmentannotationclusteringdataimportmultiplesequencealignmentphylogeneticsreproducibleresearchsoftwarevisualizationannotationsggplot2phylogenetic-trees

15.81 score 928 stars 114 dependents 10.0k scripts

DESeq2 - Differential gene expression analysis based on the negative binomial distribution

Estimate variance-mean dependence in count data from high-throughput sequencing assays and test for differential expression based on a model using the negative binomial distribution.

Last updated

sequencingrnaseqchipseqgeneexpressiontranscriptionnormalizationdifferentialexpressionbayesianregressionprincipalcomponentclusteringimmunooncologyopenblascpp

15.22 score 465 stars 127 dependents 43k scripts

Cardinal - A mass spectrometry imaging toolbox for statistical analysis

Implements statistical & computational tools for analyzing mass spectrometry imaging datasets, including methods for efficient pre-processing, spatial segmentation, and classification.

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softwareinfrastructureproteomicslipidomicsmassspectrometryimagingmassspectrometryimmunooncologynormalizationclusteringclassificationregression

10.08 score 75 stars 256 scripts

DEGreport - Report of DEG analysis

Creation of ready-to-share figures of differential expression analyses of count data. It integrates some of the code mentioned in DESeq2 and edgeR vignettes, and report a ranked list of genes according to the fold changes mean and variability for each selected gene.

Last updated

differentialexpressionvisualizationrnaseqreportwritinggeneexpressionimmunooncologybioconductordifferential-expressionqcreportrna-seqsmallrna

9.79 score 29 stars 1 dependents 593 scripts 1.2k downloads

MSstats - Protein Significance Analysis in DDA, SRM and DIA for Label-free or Label-based Proteomics Experiments

A set of tools for statistical relative protein significance analysis in DDA, SRM and DIA experiments.

Last updated

immunooncologymassspectrometryproteomicssoftwarenormalizationqualitycontroltimecourseopenblascpp

9.26 score 7 dependents 383 scripts

ProtGenerics - Generic infrastructure for Bioconductor mass spectrometry packages

S4 generic functions and classes needed by Bioconductor proteomics packages.

Last updated

infrastructureproteomicsmassspectrometrybioconductormass-spectrometrymetabolomics

7.77 score 8 stars 210 dependents 13 scripts

metaMS - MS-based metabolomics annotation pipeline

MS-based metabolomics data processing and compound annotation pipeline.

Last updated

immunooncologymassspectrometrymetabolomics

7.66 score 15 stars 22 scripts 490 downloads

Rcpi - Molecular Informatics Toolkit for Compound-Protein Interaction in Drug Discovery

A molecular informatics toolkit with an integration of bioinformatics and chemoinformatics tools for drug discovery.

Last updated

softwaredataimportdatarepresentationfeatureextractioncheminformaticsbiomedicalinformaticsproteomicsgosystemsbiologybioconductorbioinformaticsdrug-discoveryfeature-extractionfingerprintmolecular-descriptorsprotein-sequences

7.35 score 39 stars 29 scripts

BridgeDbR - Code for using BridgeDb identifier mapping framework from within R

Use BridgeDb functions and load identifier mapping databases in R. It uses GitHub, Zenodo, and Figshare if you use this package to download identifier mappings files.

Last updated

softwareannotationmetabolomicscheminformaticsbioconductor-packagebridgedbgenesidentifierslife-sciencesmetabolitesproteinsopenjdk

7.31 score 4 stars 47 scripts 484 downloads

regionReport - Generate HTML or PDF reports for a set of genomic regions or DESeq2/edgeR results

Generate HTML or PDF reports to explore a set of regions such as the results from annotation-agnostic expression analysis of RNA-seq data at base-pair resolution performed by derfinder. You can also create reports for DESeq2 or edgeR results.

Last updated

differentialexpressionsequencingrnaseqsoftwarevisualizationtranscriptioncoveragereportwritingdifferentialmethylationdifferentialpeakcallingimmunooncologyqualitycontrolbioconductorderfinderdeseq2edgerregionreportrmarkdown

7.25 score 9 stars 49 scripts

GeneOverlap - Test and visualize gene overlaps

Test two sets of gene lists and visualize the results.

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multiplecomparisonvisualization

7.13 score 1 dependents 445 scripts

viper - Virtual Inference of Protein-activity by Enriched Regulon analysis

Inference of protein activity from gene expression data, including the VIPER and msVIPER algorithms

Last updated

systemsbiologynetworkenrichmentgeneexpressionfunctionalpredictiongeneregulation

7.12 score 5 dependents 484 scripts

rpx - R Interface to the ProteomeXchange Repository

The rpx package implements an interface to proteomics data submitted to the ProteomeXchange consortium.

Last updated

immunooncologyproteomicsmassspectrometrydataimportthirdpartyclientbioconductordatamass-spectrometryproteomexchange

6.66 score 7 stars 65 scripts

DMRcate - Methylation array and sequencing spatial analysis methods

De novo identification and extraction of differentially methylated regions (DMRs) from the human genome using Whole Genome Bisulfite Sequencing (WGBS) and Illumina Infinium Array (450K and EPIC) data. Provides functionality for filtering probes possibly confounded by SNPs and cross-hybridisation. Includes GRanges generation and plotting functions.

Last updated

differentialmethylationgeneexpressionmicroarraymethylationarraygeneticsdifferentialexpressiongenomeannotationdnamethylationonechanneltwochannelmultiplecomparisonqualitycontroltimecoursesequencingwholegenomeepigeneticscoveragepreprocessingdataimport

6.32 score 2 dependents 462 scripts 1.9k downloads

groHMM - GRO-seq Analysis Pipeline

A pipeline for the analysis of GRO-seq data.

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sequencingsoftware

5.92 score 2 stars 23 scripts

hpar - Human Protein Atlas in R

The hpar package provides a simple R interface to and data from the Human Protein Atlas project.

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proteomicscellbiologydataimportfunctionalgenomicssystemsbiologyexperimenthubsoftware

5.72 score 1 dependents 35 scripts

pepStat - Statistical analysis of peptide microarrays

Statistical analysis of peptide microarrays

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microarraypreprocessing

5.68 score 8 stars 6 scripts 382 downloads

flowDensity - Sequential Flow Cytometry Data Gating

This package provides tools for automated sequential gating analogous to the manual gating strategy based on the density of the data.

Last updated

bioinformaticsflowcytometrycellbiologyclusteringcancerflowcytdatadatarepresentationstemcelldensitygating

5.61 score 4 dependents 169 scripts 704 downloads

meshr - Tools for conducting enrichment analysis of MeSH

A set of annotation maps describing the entire MeSH assembled using data from MeSH.

Last updated

annotationdatafunctionalannotationbioinformaticsstatisticsannotationmultiplecomparisonsmeshdb

4.70 score 1 stars 1 dependents 14 scripts 517 downloads

flowClean - flowClean

A quality control tool for flow cytometry data based on compositional data analysis.

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flowcytometryqualitycontrolimmunooncology

4.62 score 21 scripts 568 downloads

massiR - massiR: MicroArray Sample Sex Identifier

Predicts the sex of samples in gene expression microarray datasets

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softwaremicroarraygeneexpressionclusteringclassificationqualitycontrol

4.62 score 14 scripts

MultiMed - Testing multiple biological mediators simultaneously

Implements methods for testing multiple mediators

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multiplecomparisonstatisticalmethodsoftware

4.51 score 16 scripts 389 downloads

IVAS - Identification of genetic Variants affecting Alternative Splicing

Identification of genetic variants affecting alternative splicing.

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immunooncologyalternativesplicingdifferentialexpressiondifferentialsplicinggeneexpressiongeneregulationregressionrnaseqsequencingsnpsoftwaretranscription

4.48 score 1 scripts

SELEX - Functions for analyzing SELEX-seq data

Tools for quantifying DNA binding specificities based on SELEX-seq data.

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softwaremotifdiscoverymotifannotationgeneregulationtranscriptionopenjdk

4.41 score 13 scripts

STATegRa - Classes and methods for multi-omics data integration

Classes and tools for multi-omics data integration.

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softwarestatisticalmethodclusteringdimensionreductionprincipalcomponent

4.15 score 4 scripts 487 downloads

flowCHIC - Analyze flow cytometric data using histogram information

A package to analyze flow cytometric data of complex microbial communities based on histogram images

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immunooncologycellbasedassaysclusteringflowcytometrysoftwarevisualization

3.78 score 3 scripts 470 downloads

erccdashboard - Assess Differential Gene Expression Experiments with ERCC Controls

Technical performance metrics for differential gene expression experiments using External RNA Controls Consortium (ERCC) spike-in ratio mixtures.

Last updated

immunooncologygeneexpressiontranscriptionalternativesplicingdifferentialexpressiondifferentialsplicinggeneticsmicroarraymrnamicroarrayrnaseqbatcheffectmultiplecomparisonqualitycontrol

3.78 score 5 scripts 456 downloads

ssviz - A small RNA-seq visualizer and analysis toolkit

Small RNA sequencing viewer

Last updated

immunooncologysequencingrnaseqvisualizationmultiplecomparisongenetics

3.60 score 4 scripts 448 downloads

nondetects - Non-detects in qPCR data

Methods to model and impute non-detects in the results of qPCR experiments.

Last updated

softwareassaydomaingeneexpressiontechnologyqpcrworkflowsteppreprocessing

3.60 score 8 scripts

BEAT - BEAT - BS-Seq Epimutation Analysis Toolkit

Model-based analysis of single-cell methylation data

Last updated

immunooncologygeneticsmethylseqsoftwarednamethylationepigenetics

3.30 score 7 scripts

phyloseq - Handling and analysis of high-throughput microbiome census data

phyloseq provides a set of classes and tools to facilitate the import, storage, analysis, and graphical display of microbiome census data.

Last updated

immunooncologysequencingmicrobiomemetagenomicsclusteringclassificationmultiplecomparisongeneticvariability

15.13 score 651 stars 48 dependents 15k scripts

XVector - Foundation of external vector representation and manipulation in Bioconductor

Provides memory efficient S4 classes for storing sequences "externally" (e.g. behind an R external pointer, or on disk).

Last updated

infrastructuredatarepresentationbioconductor-packagecore-packagezlib

11.74 score 3 stars 1.8k dependents 111 scripts 112k downloads

pRoloc - A unifying bioinformatics framework for spatial proteomics

The pRoloc package implements machine learning and visualisation methods for the analysis and interogation of quantitiative mass spectrometry data to reliably infer protein sub-cellular localisation.

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immunooncologyproteomicsmassspectrometryclassificationclusteringqualitycontrolbioconductorproteomics-dataspatial-proteomicsvisualisationopenblascpp

10.42 score 16 stars 2 dependents 106 scripts

illuminaio - Parsing Illumina Microarray Output Files

Tools for parsing Illumina's microarray output files, including IDAT.

Last updated

infrastructuredataimportmicroarrayproprietaryplatformsbioconductor

9.88 score 5 stars 39 dependents 93 scripts

piano - Platform for integrative analysis of omics data

Piano performs gene set analysis using various statistical methods, from different gene level statistics and a wide range of gene-set collections. Furthermore, the Piano package contains functions for combining the results of multiple runs of gene set analyses.

Last updated

microarraypreprocessingqualitycontroldifferentialexpressionvisualizationgeneexpressiongenesetenrichmentpathwaysbioconductorbioconductor-packagebioinformaticsgene-set-enrichmenttranscriptomics

9.86 score 14 stars 9 dependents 239 scripts

DECIPHER - Tools for curating, analyzing, and manipulating biological sequences

A toolset for deciphering and managing biological sequences.

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clusteringgeneticssequencingdataimportvisualizationmicroarrayqualitycontrolqpcralignmentwholegenomemicrobiomeimmunooncologygenepredictionphylogeneticscomparativegenomicsopenmp

9.84 score 21 dependents 1.5k scripts

graphite - GRAPH Interaction from pathway Topological Environment

Graph objects from pathway topology derived from KEGG, Panther, PathBank, PharmGKB, Reactome SMPDB and WikiPathways databases.

Last updated

pathwaysthirdpartyclientgraphandnetworknetworkreactomekeggmetabolomicsbioinformaticsmirrorpathway-analysis

9.83 score 8 stars 24 dependents 185 scripts

CNORode - ODE add-on to CellNOptR

Logic based ordinary differential equation (ODE) add-on to CellNOptR.

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immunooncologycellbasedassayscellbiologyproteomicsbioinformaticstimecourse

5.95 score 1 dependents 60 scripts

qusage - qusage: Quantitative Set Analysis for Gene Expression

This package is an implementation the Quantitative Set Analysis for Gene Expression (QuSAGE) method described in (Yaari G. et al, Nucl Acids Res, 2013). This is a novel Gene Set Enrichment-type test, which is designed to provide a faster, more accurate, and easier to understand test for gene expression studies. qusage accounts for inter-gene correlations using the Variance Inflation Factor technique proposed by Wu et al. (Nucleic Acids Res, 2012). In addition, rather than simply evaluating the deviation from a null hypothesis with a single number (a P value), qusage quantifies gene set activity with a complete probability density function (PDF). From this PDF, P values and confidence intervals can be easily extracted. Preserving the PDF also allows for post-hoc analysis (e.g., pair-wise comparisons of gene set activity) while maintaining statistical traceability. Finally, while qusage is compatible with individual gene statistics from existing methods (e.g., LIMMA), a Welch-based method is implemented that is shown to improve specificity. The QuSAGE package also includes a mixed effects model implementation, as described in (Turner JA et al, BMC Bioinformatics, 2015), and a meta-analysis framework as described in (Meng H, et al. PLoS Comput Biol. 2019). For questions, contact Chris Bolen ([email protected]) or Steven Kleinstein ([email protected])

Last updated

genesetenrichmentmicroarrayrnaseqsoftwareimmunooncology

5.78 score 1 dependents 250 scripts

nucleR - Nucleosome positioning package for R

Nucleosome positioning for Tiling Arrays and NGS experiments.

Last updated

nucleosomepositioningcoveragechipseqmicroarraysequencinggeneticsqualitycontroldataimport

5.74 score 37 scripts

MethylSeekR - Segmentation of Bis-seq data

This is a package for the discovery of regulatory regions from Bis-seq data

Last updated

sequencingmethylseqdnamethylation

5.64 score 55 scripts 612 downloads

omicade4 - Multiple co-inertia analysis of omics datasets

This package performes multiple co-inertia analysis of omics datasets.

Last updated

softwareclusteringclassificationmultiplecomparison

5.56 score 1 dependents 61 scripts

eiR - Accelerated similarity searching of small molecules

The eiR package provides utilities for accelerated structure similarity searching of very large small molecule data sets using an embedding and indexing approach.

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cheminformaticsbiomedicalinformaticspharmacogeneticspharmacogenomicsmicrotitreplateassaycellbasedassaysvisualizationinfrastructuredataimportclusteringproteomicsmetabolomics

5.56 score 4 stars 15 scripts 388 downloads

ROntoTools - R Onto-Tools suite

Suite of tools for functional analysis.

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networkanalysismicroarraygraphsandnetworks

5.23 score 2 dependents 20 scripts

RNASeqPower - Sample size for RNAseq studies

RNA-seq, sample size

Last updated

immunooncologyrnaseq

5.06 score 57 scripts

rTRM - Identification of Transcriptional Regulatory Modules from Protein-Protein Interaction Networks

rTRM identifies transcriptional regulatory modules (TRMs) from protein-protein interaction networks.

Last updated

transcriptionnetworkgeneregulationgraphandnetworkbioconductorbioinformatics

4.86 score 3 stars 1 dependents 5 scripts 546 downloads

PREDA - Position Related Data Analysis

Package for the position related analysis of quantitative functional genomics data.

Last updated

softwarecopynumbervariationgeneexpressiongenetics

4.58 score 19 scripts

BaseSpaceR - R SDK for BaseSpace RESTful API

A rich R interface to Illumina's BaseSpace cloud computing environment, enabling the fast development of data analysis and visualisation tools.

Last updated

infrastructuredatarepresentationconnecttoolssoftwaredataimporthighthroughputsequencingsequencinggenetics

3.45 score 14 scripts 465 downloads

rTRMui - A shiny user interface for rTRM

This package provides a web interface to compute transcriptional regulatory modules with rTRM.

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transcriptionnetworkgeneregulationgraphandnetworkgui

3.30 score 1 stars 3 scripts 405 downloads

deltaGseg - deltaGseg

Identifying distinct subpopulations through multiscale time series analysis

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proteomicstimecoursevisualizationclustering

3.30 score 2 scripts

goseq - Gene Ontology analyser for RNA-seq and other length biased data

Detects Gene Ontology and/or other user defined categories which are over/under represented in RNA-seq data.

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immunooncologysequencinggogeneexpressiontranscriptionrnaseqdifferentialexpressionannotationgenesetenrichmentkeggpathwayssoftware

9.87 score 2 stars 10 dependents 1.0k scripts

survcomp - Performance Assessment and Comparison for Survival Analysis

Assessment and Comparison for Performance of Risk Prediction (Survival) Models.

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geneexpressiondifferentialexpressionvisualizationcpp

8.63 score 14 dependents 508 scripts

cqn - Conditional quantile normalization

A normalization tool for RNA-Seq data, implementing the conditional quantile normalization method.

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immunooncologyrnaseqpreprocessingdifferentialexpression

6.83 score 4 dependents 282 scripts

netresponse - Functional Network Analysis

Algorithms for functional network analysis. Includes an implementation of a variational Dirichlet process Gaussian mixture model for nonparametric mixture modeling.

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cellbiologyclusteringgeneexpressiongeneticsnetworkgraphandnetworkdifferentialexpressionmicroarraynetworkinferencetranscription

5.84 score 3 stars 33 scripts

frma - Frozen RMA and Barcode

Preprocessing and analysis for single microarrays and microarray batches.

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softwaremicroarraypreprocessing

5.70 score 1 dependents 83 scripts

ReadqPCR - Read qPCR data

The package provides functions to read raw RT-qPCR data of different platforms.

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dataimportmicrotitreplateassaygeneexpressionqpcr

5.36 score 2 dependents 19 scripts 517 downloads

DEGseq - Identify Differentially Expressed Genes from RNA-seq data

DEGseq is an R package to identify differentially expressed genes from RNA-Seq data.

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rnaseqpreprocessinggeneexpressiondifferentialexpressionimmunooncologycpp

5.07 score 59 scripts

frmaTools - Frozen RMA Tools

Tools for advanced use of the frma package.

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softwaremicroarraypreprocessing

3.90 score 6 scripts

clstutils - Tools for performing taxonomic assignment

Tools for performing taxonomic assignment based on phylogeny using pplacer and clst.

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sequencingclassificationvisualizationqualitycontrol

3.68 score 12 scripts 454 downloads

chopsticks - The 'snp.matrix' and 'X.snp.matrix' Classes

Implements classes and methods for large-scale SNP association studies

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microarraysnpsandgeneticvariabilitysnpgeneticvariability

3.48 score 6 scripts

Mulcom - Calculates Mulcom test

Identification of differentially expressed genes and false discovery rate (FDR) calculation by Multiple Comparison test.

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statisticalmethodmultiplecomparisonmicroarraydifferentialexpressiongeneexpressioncpp

3.00 score

AnnotationDbi - Manipulation of SQLite-based annotations in Bioconductor

Implements a user-friendly interface for querying SQLite-based annotation data packages.

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annotationmicroarraysequencinggenomeannotationbioconductor-packagecore-package

13.59 score 10 stars 769 dependents 6.2k scripts

microbiome - Microbiome Analytics

Utilities for microbiome analysis.

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metagenomicsmicrobiomesequencingsystemsbiologyhitchiphitchip-atlashuman-microbiomemicrobiologymicrobiome-analysisphyloseqpopulation-study

12.71 score 318 stars 5 dependents 3.4k scripts

BSgenome - Software infrastructure for efficient representation of full genomes and their SNPs

Infrastructure shared by all the Biostrings-based genome data packages.

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geneticsinfrastructuredatarepresentationsequencematchingannotationsnpbioconductor-packagecore-package

11.65 score 9 stars 280 dependents 2.4k scripts

preprocessCore - A collection of pre-processing functions

A library of core preprocessing routines.

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infrastructureopenblas

10.74 score 19 stars 216 dependents 2.8k scripts

BASiCS - Bayesian Analysis of Single-Cell Sequencing data

Single-cell mRNA sequencing can uncover novel cell-to-cell heterogeneity in gene expression levels in seemingly homogeneous populations of cells. However, these experiments are prone to high levels of technical noise, creating new challenges for identifying genes that show genuine heterogeneous expression within the population of cells under study. BASiCS (Bayesian Analysis of Single-Cell Sequencing data) is an integrated Bayesian hierarchical model to perform statistical analyses of single-cell RNA sequencing datasets in the context of supervised experiments (where the groups of cells of interest are known a priori, e.g. experimental conditions or cell types). BASiCS performs built-in data normalisation (global scaling) and technical noise quantification (based on spike-in genes). BASiCS provides an intuitive detection criterion for highly (or lowly) variable genes within a single group of cells. Additionally, BASiCS can compare gene expression patterns between two or more pre-specified groups of cells. Unlike traditional differential expression tools, BASiCS quantifies changes in expression that lie beyond comparisons of means, also allowing the study of changes in cell-to-cell heterogeneity. The latter can be quantified via a biological over-dispersion parameter that measures the excess of variability that is observed with respect to Poisson sampling noise, after normalisation and technical noise removal. Due to the strong mean/over-dispersion confounding that is typically observed for scRNA-seq datasets, BASiCS also tests for changes in residual over-dispersion, defined by residual values with respect to a global mean/over-dispersion trend.

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immunooncologynormalizationsequencingrnaseqsoftwaregeneexpressiontranscriptomicssinglecelldifferentialexpressionbayesiancellbiologybioconductor-packagegene-expressionrcpprcpparmadilloscrna-seqsingle-cellopenblascppopenmp

10.55 score 88 stars 1 dependents 541 scripts

GSEABase - Gene set enrichment data structures and methods

This package provides classes and methods to support Gene Set Enrichment Analysis (GSEA).

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geneexpressiongenesetenrichmentgraphandnetworkgokegg

10.40 score 75 dependents 2.4k scripts 15k downloads

annotate - Annotation for microarrays

Using R enviroments for annotation.

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annotationpathwaysgo

9.95 score 235 dependents 904 scripts

oligo - Preprocessing tools for oligonucleotide arrays

A package to analyze oligonucleotide arrays (expression/SNP/tiling/exon) at probe-level. It currently supports Affymetrix (CEL files) and NimbleGen arrays (XYS files).

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microarrayonechanneltwochannelpreprocessingsnpdifferentialexpressionexonarraygeneexpressiondataimportzlib

9.79 score 3 stars 10 dependents 622 scripts

Category - Category Analysis

A collection of tools for performing category (gene set enrichment) analysis.

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annotationgopathwaysgenesetenrichment

8.00 score 14 dependents 590 scripts

geneplotter - Graphics related functions for Bioconductor

Functions for plotting genomic data

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visualization

7.74 score 11 dependents 418 scripts

ROC - utilities for ROC, with microarray focus

Provide utilities for ROC, with microarray focus.

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differentialexpression

7.67 score 12 dependents 72 scripts

flowViz - Visualization for flow cytometry

Provides visualization tools for flow cytometry data.

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immunooncologyinfrastructureflowcytometrycellbasedassaysvisualization

7.37 score 15 dependents 258 scripts

gcrma - Background Adjustment Using Sequence Information

Background adjustment using sequence information

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microarrayonechannelpreprocessing

7.12 score 11 dependents 198 scripts

NanoStringNCTools - NanoString nCounter Tools

Tools for NanoString Technologies nCounter Technology. Provides support for reading RCC files into an ExpressionSet derived object. Also includes methods for QC and normalizaztion of NanoString data.

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geneexpressiontranscriptioncellbasedassaysdataimporttranscriptomicsproteomicsmrnamicroarrayproprietaryplatformsrnaseq

6.79 score 4 dependents 204 scripts 732 downloads

PROcess - Ciphergen SELDI-TOF Processing

A package for processing protein mass spectrometry data.

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immunooncologymassspectrometryproteomics

6.59 score 1.9k scripts 531 downloads

GOstats - Tools for manipulating GO and microarrays

A set of tools for interacting with GO and microarray data. A variety of basic manipulation tools for graphs, hypothesis testing and other simple calculations.

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annotationgomultiplecomparisongeneexpressionmicroarraypathwaysgenesetenrichmentgraphandnetwork

6.55 score 10 dependents 598 scripts

minet - Mutual Information NETworks

This package implements various algorithms for inferring mutual information networks from data.

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microarraygraphandnetworknetworknetworkinferencecpp

6.11 score 15 dependents 142 scripts

planet - Placental DNA methylation analysis tools

This package contains R functions to predict biological variables to from placnetal DNA methylation data generated from infinium arrays. This includes inferring ethnicity/ancestry, gestational age, and cell composition from placental DNA methylation array (450k/850k) data.

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softwaredifferentialmethylationepigeneticsmicroarraymethylationarraydnamethylationcpgislandancestrydna-methylation-datageneticsinferencemachine-learningplacenta

6.09 score 4 stars 1 dependents 34 scripts

bioDist - Different distance measures

A collection of software tools for calculating distance measures.

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clusteringclassification

6.09 score 3 dependents 68 scripts

chipseq - chipseq: A package for analyzing chipseq data

Tools for helping process short read data for chipseq experiments.

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chipseqsequencingcoveragequalitycontroldataimport

6.08 score 2 dependents 95 scripts 1.2k downloads

seqcombo - Visualization Tool for Genetic Reassortment

Provides useful functions for visualizing virus reassortment events.

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alignmentsoftwarevisualization

5.92 score 21 stars 8 scripts 376 downloads

convert - Convert Microarray Data Objects

Define coerce methods for microarray data objects.

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infrastructuremicroarraytwochannel

5.76 score 1 dependents 137 scripts

ctc - Cluster and Tree Conversion.

Tools for export and import classification trees and clusters to other programs

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microarrayclusteringclassificationdataimportvisualization

5.73 score 2 dependents 89 scripts

GeomxTools - NanoString GeoMx Tools

Tools for NanoString Technologies GeoMx Technology. Package provides functions for reading in DCC and PKC files based on an ExpressionSet derived object. Normalization and QC functions are also included.

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geneexpressiontranscriptioncellbasedassaysdataimporttranscriptomicsproteomicsmrnamicroarrayproprietaryplatformsrnaseqsequencingexperimentaldesignnormalizationspatial

5.72 score 3 dependents 293 scripts

ppcseq - Probabilistic Outlier Identification for RNA Sequencing Generalized Linear Models

Relative transcript abundance has proven to be a valuable tool for understanding the function of genes in biological systems. For the differential analysis of transcript abundance using RNA sequencing data, the negative binomial model is by far the most frequently adopted. However, common methods that are based on a negative binomial model are not robust to extreme outliers, which we found to be abundant in public datasets. So far, no rigorous and probabilistic methods for detection of outliers have been developed for RNA sequencing data, leaving the identification mostly to visual inspection. Recent advances in Bayesian computation allow large-scale comparison of observed data against its theoretical distribution given in a statistical model. Here we propose ppcseq, a key quality-control tool for identifying transcripts that include outlier data points in differential expression analysis, which do not follow a negative binomial distribution. Applying ppcseq to analyse several publicly available datasets using popular tools, we show that from 3 to 10 percent of differentially abundant transcripts across algorithms and datasets had statistics inflated by the presence of outliers.

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rnaseqdifferentialexpressiongeneexpressionnormalizationclusteringqualitycontrolsequencingtranscriptiontranscriptomicsbayesian-inferencedeseq2edgernegative-binomialoutlierstancpp

5.71 score 8 stars 16 scripts

bnbc - Bandwise normalization and batch correction of Hi-C data

Tools to normalize (several) Hi-C data from replicates.

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hicpreprocessingnormalizationsoftwarecpp

5.48 score 2 stars 15 scripts

goProfiles - goProfiles: an R package for the statistical analysis of functional profiles

The package implements methods to compare lists of genes based on comparing the corresponding 'functional profiles'.

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annotationgogeneexpressiongenesetenrichmentgraphandnetworkmicroarraymultiplecomparisonpathwayssoftware

5.48 score 1 dependents 8 scripts 528 downloads

GlobalAncova - Global test for groups of variables via model comparisons

The association between a variable of interest (e.g. two groups) and the global pattern of a group of variables (e.g. a gene set) is tested via a global F-test. We give the following arguments in support of the GlobalAncova approach: After appropriate normalisation, gene-expression-data appear rather symmetrical and outliers are no real problem, so least squares should be rather robust. ANCOVA with interaction yields saturated data modelling e.g. different means per group and gene. Covariate adjustment can help to correct for possible selection bias. Variance homogeneity and uncorrelated residuals cannot be expected. Application of ordinary least squares gives unbiased, but no longer optimal estimates (Gauss-Markov-Aitken). Therefore, using the classical F-test is inappropriate, due to correlation. The test statistic however mirrors deviations from the null hypothesis. In combination with a permutation approach, empirical significance levels can be approximated. Alternatively, an approximation yields asymptotic p-values. The framework is generalized to groups of categorical variables or even mixed data by a likelihood ratio approach. Closed and hierarchical testing procedures are supported. This work was supported by the NGFN grant 01 GR 0459, BMBF, Germany and BMBF grant 01ZX1309B, Germany.

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microarrayonechanneldifferentialexpressionpathwaysregression

5.41 score 1 dependents 12 scripts 1.8k downloads

MouseFM - In-silico methods for genetic finemapping in inbred mice

This package provides methods for genetic finemapping in inbred mice by taking advantage of their very high homozygosity rate (>95%).

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geneticssnpgenetargetvariantannotationgenomicvariationmultiplecomparisonsystemsbiologymathematicalbiologypatternlogicgenepredictionbiomedicalinformaticsfunctionalgenomicsfinemapgene-candidatesinbred-miceinbred-strainsmouseqtlqtl-mapping

5.38 score 6 scripts

HELP - Tools for HELP data analysis

The package contains a modular pipeline for analysis of HELP microarray data, and includes graphical and mathematical tools with more general applications.

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cpgislanddnamethylationmicroarraytwochanneldataimportqualitycontrolpreprocessingvisualization

5.38 score 119 scripts

SurfR - Surface Protein Prediction and Identification

Identify Surface Protein coding genes from a list of candidates. Systematically download data from GEO and TCGA or use your own data. Perform DGE on bulk RNAseq data. Perform Meta-analysis. Descriptive enrichment analysis and plots.

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softwaresequencingrnaseqgeneexpressiontranscriptiondifferentialexpressionprincipalcomponentgenesetenrichmentpathwaysbatcheffectfunctionalgenomicsvisualizationdataimportfunctionalpredictiongenepredictiongodgeenrichment-analysismetaanalysisplotsproteinspublic-datasurfacesurfaceome

5.26 score 6 stars 5 scripts

IsoBayes - IsoBayes: Single Isoform protein inference Method via Bayesian Analyses

IsoBayes is a Bayesian method to perform inference on single protein isoforms. Our approach infers the presence/absence of protein isoforms, and also estimates their abundance; additionally, it provides a measure of the uncertainty of these estimates, via: i) the posterior probability that a protein isoform is present in the sample; ii) a posterior credible interval of its abundance. IsoBayes inputs liquid cromatography mass spectrometry (MS) data, and can work with both PSM counts, and intensities. When available, trascript isoform abundances (i.e., TPMs) are also incorporated: TPMs are used to formulate an informative prior for the respective protein isoform relative abundance. We further identify isoforms where the relative abundance of proteins and transcripts significantly differ. We use a two-layer latent variable approach to model two sources of uncertainty typical of MS data: i) peptides may be erroneously detected (even when absent); ii) many peptides are compatible with multiple protein isoforms. In the first layer, we sample the presence/absence of each peptide based on its estimated probability of being mistakenly detected, also known as PEP (i.e., posterior error probability). In the second layer, for peptides that were estimated as being present, we allocate their abundance across the protein isoforms they map to. These two steps allow us to recover the presence and abundance of each protein isoform.

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statisticalmethodbayesianproteomicsmassspectrometryalternativesplicingsequencingrnaseqgeneexpressiongeneticsvisualizationsoftwarecpp

5.08 score 8 stars 15 scripts 274 downloads

densvis - Density-Preserving Data Visualization via Non-Linear Dimensionality Reduction

Implements the density-preserving modification to t-SNE and UMAP described by Narayan et al. (2020) <doi:10.1101/2020.05.12.077776>. The non-linear dimensionality reduction techniques t-SNE and UMAP enable users to summarise complex high-dimensional sequencing data such as single cell RNAseq using lower dimensional representations. These lower dimensional representations enable the visualisation of discrete transcriptional states, as well as continuous trajectory (for example, in early development). However, these methods focus on the local neighbourhood structure of the data. In some cases, this results in misleading visualisations, where the density of cells in the low-dimensional embedding does not represent the transcriptional heterogeneity of data in the original high-dimensional space. den-SNE and densMAP aim to enable more accurate visual interpretation of high-dimensional datasets by producing lower-dimensional embeddings that accurately represent the heterogeneity of the original high-dimensional space, enabling the identification of homogeneous and heterogeneous cell states. This accuracy is accomplished by including in the optimisation process a term which considers the local density of points in the original high-dimensional space. This can help to create visualisations that are more representative of heterogeneity in the original high-dimensional space.

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dimensionreductionvisualizationsoftwaresinglecellsequencingcppopenmp

4.96 score 2 stars 23 scripts

fobitools - Tools for Manipulating the FOBI Ontology

A set of tools for interacting with the Food-Biomarker Ontology (FOBI). A collection of basic manipulation tools for biological significance analysis, graphs, and text mining strategies for annotating nutritional data.

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massspectrometrymetabolomicssoftwarevisualizationbiomedicalinformaticsgraphandnetworkannotationcheminformaticspathwaysgenesetenrichmentbiological-intrerpretationbiological-knowledgebiological-significance-analysisenrichment-analysisfood-biomarker-ontologyknowledge-graphnutritionobofoundryontologytext-mining

4.90 score 1 stars 7 scripts

MANOR - CGH Micro-Array NORmalization

Importation, normalization, visualization, and quality control functions to correct identified sources of variability in array-CGH experiments.

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microarraytwochanneldataimportqualitycontrolpreprocessingcopynumbervariationnormalization

4.80 score 1 scripts

DeepPINCS - Protein Interactions and Networks with Compounds based on Sequences using Deep Learning

The identification of novel compound-protein interaction (CPI) is important in drug discovery. Revealing unknown compound-protein interactions is useful to design a new drug for a target protein by screening candidate compounds. The accurate CPI prediction assists in effective drug discovery process. To identify potential CPI effectively, prediction methods based on machine learning and deep learning have been developed. Data for sequences are provided as discrete symbolic data. In the data, compounds are represented as SMILES (simplified molecular-input line-entry system) strings and proteins are sequences in which the characters are amino acids. The outcome is defined as a variable that indicates how strong two molecules interact with each other or whether there is an interaction between them. In this package, a deep-learning based model that takes only sequence information of both compounds and proteins as input and the outcome as output is used to predict CPI. The model is implemented by using compound and protein encoders with useful features. The CPI model also supports other modeling tasks, including protein-protein interaction (PPI), chemical-chemical interaction (CCI), or single compounds and proteins. Although the model is designed for proteins, DNA and RNA can be used if they are represented as sequences.

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softwarenetworkgraphandnetworkneuralnetworkopenjdk

4.78 score 2 dependents 6 scripts

SpatialOmicsOverlay - Spatial Overlay for Omic Data from Nanostring GeoMx Data

Tools for NanoString Technologies GeoMx Technology. Package to easily graph on top of an OME-TIFF image. Plotting annotations can range from tissue segment to gene expression.

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geneexpressiontranscriptioncellbasedassaysdataimporttranscriptomicsproteomicsproprietaryplatformsrnaseqspatialdatarepresentationvisualizationopenjdk

4.63 score 17 scripts

mogsa - Multiple omics data integrative clustering and gene set analysis

This package provide a method for doing gene set analysis based on multiple omics data.

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geneexpressionprincipalcomponentstatisticalmethodclusteringsoftware

4.60 score 100 scripts 601 downloads

limmaGUI - GUI for limma Package With Two Color Microarrays

A Graphical User Interface for differential expression analysis of two-color microarray data using the limma package.

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guigeneexpressiondifferentialexpressiondataimportbayesianregressiontimecoursemicroarraymrnamicroarraytwochannelbatcheffectmultiplecomparisonnormalizationpreprocessingqualitycontrol

4.60 score 2 scripts

affylmGUI - GUI for limma Package with Affymetrix Microarrays

A Graphical User Interface (GUI) for analysis of Affymetrix microarray gene expression data using the affy and limma packages.

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guigeneexpressiontranscriptiondifferentialexpressiondataimportbayesianregressiontimecoursemicroarraymrnamicroarrayonechannelproprietaryplatformsbatcheffectmultiplecomparisonnormalizationpreprocessingqualitycontrol

4.60 score 4 scripts

panelcn.mops - CNV detection tool for targeted NGS panel data

CNV detection tool for targeted NGS panel data. Extension of the cn.mops package.

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sequencingcopynumbervariationcellbiologygenomicvariationvariantdetectiongenetics

4.56 score 18 scripts

altcdfenvs - alternative CDF environments (aka probeset mappings)

Convenience data structures and functions to handle cdfenvs

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microarrayonechannelqualitycontrolpreprocessingannotationproprietaryplatformstranscription

4.48 score 6 scripts

protGear - Protein Micro Array Data Management and Interactive Visualization

A generic three-step pre-processing package for protein microarray data. This package contains different data pre-processing procedures to allow comparison of their performance.These steps are background correction, the coefficient of variation (CV) based filtering, batch correction and normalization.

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microarrayonechannelpreprocessingbiomedicalinformaticsproteomicsbatcheffectnormalizationbayesianclusteringregressionsystemsbiologyimmunooncologybackground-correctionmicroarray-datanormalisationproteomics-datashinyshinydashboard

4.34 score 1 stars 11 scripts

AgiMicroRna - Processing and Differential Expression Analysis of Agilent microRNA chips

Processing and Analysis of Agilent microRNA data

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microarrayagilentchiponechannelpreprocessingdifferentialexpression

4.34 score 11 scripts

muscle - Multiple Sequence Alignment with MUSCLE

MUSCLE performs multiple sequence alignments of nucleotide or amino acid sequences.

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multiplesequencealignmentalignmentsequencinggeneticssequencematchingdataimportcpp

4.33 score 108 scripts

PDATK - Pancreatic Ductal Adenocarcinoma Tool-Kit

Pancreatic ductal adenocarcinoma (PDA) has a relatively poor prognosis and is one of the most lethal cancers. Molecular classification of gene expression profiles holds the potential to identify meaningful subtypes which can inform therapeutic strategy in the clinical setting. The Pancreatic Cancer Adenocarcinoma Tool-Kit (PDATK) provides an S4 class-based interface for performing unsupervised subtype discovery, cross-cohort meta-clustering, gene-expression-based classification, and subsequent survival analysis to identify prognostically useful subtypes in pancreatic cancer and beyond. Two novel methods, Consensus Subtypes in Pancreatic Cancer (CSPC) and Pancreatic Cancer Overall Survival Predictor (PCOSP) are included for consensus-based meta-clustering and overall-survival prediction, respectively. Additionally, four published subtype classifiers and three published prognostic gene signatures are included to allow users to easily recreate published results, apply existing classifiers to new data, and benchmark the relative performance of new methods. The use of existing Bioconductor classes as input to all PDATK classes and methods enables integration with existing Bioconductor datasets, including the 21 pancreatic cancer patient cohorts available in the MetaGxPancreas data package. PDATK has been used to replicate results from Sandhu et al (2019) [https://doi.org/10.1200/cci.18.00102] and an additional paper is in the works using CSPC to validate subtypes from the included published classifiers, both of which use the data available in MetaGxPancreas. The inclusion of subtype centroids and prognostic gene signatures from these and other publications will enable researchers and clinicians to classify novel patient gene expression data, allowing the direct clinical application of the classifiers included in PDATK. Overall, PDATK provides a rich set of tools to identify and validate useful prognostic and molecular subtypes based on gene-expression data, benchmark new classifiers against existing ones, and apply discovered classifiers on novel patient data to inform clinical decision making.

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geneexpressionpharmacogeneticspharmacogenomicssoftwareclassificationsurvivalclusteringgeneprediction

4.31 score 1 stars 17 scripts

RNAseqCovarImpute - Impute Covariate Data in RNA Sequencing Studies

The RNAseqCovarImpute package makes linear model analysis for RNA sequencing read counts compatible with multiple imputation (MI) of missing covariates. A major problem with implementing MI in RNA sequencing studies is that the outcome data must be included in the imputation prediction models to avoid bias. This is difficult in omics studies with high-dimensional data. The first method we developed in the RNAseqCovarImpute package surmounts the problem of high-dimensional outcome data by binning genes into smaller groups to analyze pseudo-independently. This method implements covariate MI in gene expression studies by 1) randomly binning genes into smaller groups, 2) creating M imputed datasets separately within each bin, where the imputation predictor matrix includes all covariates and the log counts per million (CPM) for the genes within each bin, 3) estimating gene expression changes using `limma::voom` followed by `limma::lmFit` functions, separately on each M imputed dataset within each gene bin, 4) un-binning the gene sets and stacking the M sets of model results before applying the `limma::squeezeVar` function to apply a variance shrinking Bayesian procedure to each M set of model results, 5) pooling the results with Rubins’ rules to produce combined coefficients, standard errors, and P-values, and 6) adjusting P-values for multiplicity to account for false discovery rate (FDR). A faster method uses principal component analysis (PCA) to avoid binning genes while still retaining outcome information in the MI models. Binning genes into smaller groups requires that the MI and limma-voom analysis is run many times (typically hundreds). The more computationally efficient MI PCA method implements covariate MI in gene expression studies by 1) performing PCA on the log CPM values for all genes using the Bioconductor `PCAtools` package, 2) creating M imputed datasets where the imputation predictor matrix includes all covariates and the optimum number of PCs to retain (e.g., based on Horn’s parallel analysis or the number of PCs that account for >80% explained variation), 3) conducting the standard limma-voom pipeline with the `voom` followed by `lmFit` followed by `eBayes` functions on each M imputed dataset, 4) pooling the results with Rubins’ rules to produce combined coefficients, standard errors, and P-values, and 5) adjusting P-values for multiplicity to account for false discovery rate (FDR).

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rnaseqgeneexpressiondifferentialexpressionsequencing

4.30 score 1 stars 8 scripts 281 downloads

MAGAR - MAGAR: R-package to compute methylation Quantitative Trait Loci (methQTL) from DNA methylation and genotyping data

"Methylation-Aware Genotype Association in R" (MAGAR) computes methQTL from DNA methylation and genotyping data from matched samples. MAGAR uses a linear modeling stragety to call CpGs/SNPs that are methQTLs. MAGAR accounts for the local correlation structure of CpGs.

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regressionepigeneticsdnamethylationsnpgeneticvariabilitymethylationarraymicroarraycpgislandmethylseqsequencingmrnamicroarraypreprocessingcopynumbervariationtwochannelimmunooncologydifferentialmethylationbatcheffectqualitycontroldataimportnetworkclusteringgraphandnetwork

4.30 score 4 scripts

methimpute - Imputation-guided re-construction of complete methylomes from WGBS data

This package implements functions for calling methylation for all cytosines in the genome.

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immunooncologysoftwarednamethylationepigeneticshiddenmarkovmodelsequencingcoveragecppopenmp

4.20 score 16 scripts

RNAdecay - Maximum Likelihood Decay Modeling of RNA Degradation Data

RNA degradation is monitored through measurement of RNA abundance after inhibiting RNA synthesis. This package has functions and example scripts to facilitate (1) data normalization, (2) data modeling using constant decay rate or time-dependent decay rate models, (3) the evaluation of treatment or genotype effects, and (4) plotting of the data and models. Data Normalization: functions and scripts make easy the normalization to the initial (T0) RNA abundance, as well as a method to correct for artificial inflation of Reads per Million (RPM) abundance in global assessments as the total size of the RNA pool decreases. Modeling: Normalized data is then modeled using maximum likelihood to fit parameters. For making treatment or genotype comparisons (up to four), the modeling step models all possible treatment effects on each gene by repeating the modeling with constraints on the model parameters (i.e., the decay rate of treatments A and B are modeled once with them being equal and again allowing them to both vary independently). Model Selection: The AICc value is calculated for each model, and the model with the lowest AICc is chosen. Modeling results of selected models are then compiled into a single data frame. Graphical Plotting: functions are provided to easily visualize decay data model, or half-life distributions using ggplot2 package functions.

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immunooncologysoftwaregeneexpressiongeneregulationdifferentialexpressiontranscriptiontranscriptomicstimecourseregressionrnaseqnormalizationworkflowstep

4.18 score 2 scripts

ITALICS - ITALICS

A Method to normalize of Affymetrix GeneChip Human Mapping 100K and 500K set

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microarraycopynumbervariation

4.08 score 1 scripts

CGHbase - CGHbase: Base functions and classes for arrayCGH data analysis.

Contains functions and classes that are needed by arrayCGH packages.

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infrastructuremicroarraycopynumbervariation

3.98 score 8 dependents 6 scripts 908 downloads

DynDoc - Dynamic document tools

A set of functions to create and interact with dynamic documents and vignettes.

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reportwritinginfrastructure

3.93 score 6 dependents 9 scripts 2.4k downloads

roastgsa - Rotation based gene set analysis

This package implements a variety of functions useful for gene set analysis using rotations to approximate the null distribution. It contributes with the implementation of seven test statistic scores that can be used with different goals and interpretations. Several functions are available to complement the statistical results with graphical representations.

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microarraypreprocessingnormalizationgeneexpressionsurvivaltranscriptionsequencingtranscriptomicsbayesianclusteringregressionrnaseqmicrornaarraymrnamicroarrayfunctionalgenomicssystemsbiologyimmunooncologydifferentialexpressiongenesetenrichmentbatcheffectmultiplecomparisonqualitycontroltimecoursemetabolomicsproteomicsepigeneticscheminformaticsexonarrayonechanneltwochannelproprietaryplatformscellbiologybiomedicalinformaticsalternativesplicingdifferentialsplicingdataimportpathways

3.89 score 13 scripts

DMCHMM - Differentially Methylated CpG using Hidden Markov Model

A pipeline for identifying differentially methylated CpG sites using Hidden Markov Model in bisulfite sequencing data. DNA methylation studies have enabled researchers to understand methylation patterns and their regulatory roles in biological processes and disease. However, only a limited number of statistical approaches have been developed to provide formal quantitative analysis. Specifically, a few available methods do identify differentially methylated CpG (DMC) sites or regions (DMR), but they suffer from limitations that arise mostly due to challenges inherent in bisulfite sequencing data. These challenges include: (1) that read-depths vary considerably among genomic positions and are often low; (2) both methylation and autocorrelation patterns change as regions change; and (3) CpG sites are distributed unevenly. Furthermore, there are several methodological limitations: almost none of these tools is capable of comparing multiple groups and/or working with missing values, and only a few allow continuous or multiple covariates. The last of these is of great interest among researchers, as the goal is often to find which regions of the genome are associated with several exposures and traits. To tackle these issues, we have developed an efficient DMC identification method based on Hidden Markov Models (HMMs) called “DMCHMM” which is a three-step approach (model selection, prediction, testing) aiming to address the aforementioned drawbacks.

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differentialmethylationsequencinghiddenmarkovmodelcoverage

3.78 score 3 scripts

BicARE - Biclustering Analysis and Results Exploration

Biclustering Analysis and Results Exploration.

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microarraytranscriptionclustering

3.78 score 1 dependents 3 scripts

diffGeneAnalysis - Performs differential gene expression Analysis

Analyze microarray data

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microarraydifferentialexpression

3.78 score 1 scripts 426 downloads

MVCClass - Model-View-Controller (MVC) Classes

Creates classes used in model-view-controller (MVC) design

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visualizationinfrastructuregraphandnetwork

3.78 score 1 dependents

CausalR - Causal network analysis methods

Causal network analysis methods for regulator prediction and network reconstruction from genome scale data.

Last updated

immunooncologysystemsbiologynetworkgraphandnetworknetwork inferencetranscriptomicsproteomicsdifferentialexpressionrnaseqmicroarray

3.60 score 8 scripts

OLINgui - Graphical user interface for OLIN

Graphical user interface for the OLIN package

Last updated

microarraytwochannelqualitycontrolpreprocessingvisualization

3.60 score 1 scripts

arrayQuality - Assessing array quality on spotted arrays

Functions for performing print-run and array level quality assessment.

Last updated

microarraytwochannelqualitycontrolvisualization

3.38 score 12 scripts 612 downloads

sampleClassifier - Sample Classifier

The package is designed to classify microarray RNA-seq gene expression profiles.

Last updated

immunooncologyclassificationmicroarrayrnaseqgeneexpression

3.30 score 1 scripts

pandaR - PANDA Algorithm

Runs PANDA, an algorithm for discovering novel network structure by combining information from multiple complementary data sources.

Last updated

statisticalmethodgraphandnetworkmicroarraygeneregulationnetworkinferencegeneexpressiontranscriptionnetwork

3.30 score 8 scripts

diggit - Inference of Genetic Variants Driving Cellular Phenotypes

Inference of Genetic Variants Driving Cellullar Phenotypes by the DIGGIT algorithm

Last updated

systemsbiologynetworkenrichmentgeneexpressionfunctionalpredictiongeneregulation

3.30 score 4 scripts

hyperdraw - Visualizing Hypergaphs

Functions for visualizing hypergraphs.

Last updated

visualizationgraphandnetwork

3.30 score 4 scripts

BioMVCClass - Model-View-Controller (MVC) Classes That Use Biobase

Creates classes used in model-view-controller (MVC) design

Last updated

visualizationinfrastructuregraphandnetwork

3.30 score 2 scripts 490 downloads