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# CITATION file created with {cffr} R package
# See also: https://docs.ropensci.org/cffr/
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cff-version: 1.2.0
message: 'To cite package "RareVariantVis" in publications use:'
type: software
license: Artistic-2.0
title: 'RareVariantVis: A suite for analysis of rare genomic variants in whole genome
  sequencing data'
version: 2.33.0
abstract: Second version of RareVariantVis package aims to provide comprehensive information
  about rare variants for your genome data. It annotates, filters and presents genomic
  variants (especially rare ones) in a global, per chromosome way. For discovered
  rare variants CRISPR guide RNAs are designed, so the user can plan further functional
  studies. Large structural variants, including copy number variants are also supported.
  Package accepts variants directly from variant caller - for example GATK or Speedseq.
  Output of package are lists of variants together with adequate visualization. Visualization
  of variants is performed in two ways - standard that outputs png figures and interactive
  that uses JavaScript d3 package. Interactive visualization allows to analyze trio/family
  data, for example in search for causative variants in rare Mendelian diseases, in
  point-and-click interface. The package includes homozygous region caller and allows
  to analyse whole human genomes in less than 30 minutes on a desktop computer. RareVariantVis
  disclosed novel causes of several rare monogenic disorders, including one with non-coding
  causative variant - keratolythic winter erythema.
authors:
- family-names: Stokowy
  given-names: Tomasz
  email: tomasz.stokowy@k2.uib.no
- family-names: Gudys
  given-names: Adam
preferred-citation:
  type: manual
  title: 'RareVariantVis: new tool for visualization of causative variants in rare
    monogenic disorders using whole genome sequencing data.'
  authors:
  - family-names: Stokowy
    given-names: Tomasz
    email: tomasz.stokowy@k2.uib.no
  journal: Bioinformatics
  year: '2016'
  url: https://www.ncbi.nlm.nih.gov/pubmed/27288501
repository: https://bioc.r-universe.dev
date-released: '2018-04-15'
contact:
- family-names: Stokowy
  given-names: Tomasz
  email: tomasz.stokowy@k2.uib.no