# -------------------------------------------- # CITATION file created with {cffr} R package # See also: https://docs.ropensci.org/cffr/ # -------------------------------------------- cff-version: 1.2.0 message: 'To cite package "ISAnalytics" in publications use:' type: software license: CC-BY-4.0 title: 'ISAnalytics: Analyze gene therapy vector insertion sites data identified from genomics next generation sequencing reads for clonal tracking studies' version: 1.15.0 doi: 10.18129/B9.bioc.ISAnalytics abstract: In gene therapy, stem cells are modified using viral vectors to deliver the therapeutic transgene and replace functional properties since the genetic modification is stable and inherited in all cell progeny. The retrieval and mapping of the sequences flanking the virus-host DNA junctions allows the identification of insertion sites (IS), essential for monitoring the evolution of genetically modified cells in vivo. A comprehensive toolkit for the analysis of IS is required to foster clonal trackign studies and supporting the assessment of safety and long term efficacy in vivo. This package is aimed at (1) supporting automation of IS workflow, (2) performing base and advance analysis for IS tracking (clonal abundance, clonal expansions and statistics for insertional mutagenesis, etc.), (3) providing basic biology insights of transduced stem cells in vivo. authors: - family-names: Pais given-names: Giulia email: giuliapais1@gmail.com orcid: https://orcid.org/0009-0005-5621-4803 - family-names: Calabria given-names: Andrea email: calabria.andrea@hsr.it - family-names: Spinozzi given-names: Giulio email: spinozzi.giulio@hsr.it preferred-citation: type: manual title: Analyze gene therapy vector insertion sites data identified from genomics next generation sequencing reads for clonal tracking studies authors: - family-names: Andrea given-names: Calabria - family-names: Giulio given-names: Spinozzi - family-names: Giulia given-names: Pais year: '2024' url: http://www.bioconductor.org/packages/ISAnalytics notes: https://github.com/calabrialab/ISAnalytics - R package version 1.15.0 doi: 10.18129/B9.bioc.ISAnalytics repository: https://bioc.r-universe.dev repository-code: https://github.com/calabrialab/ISAnalytics url: https://calabrialab.github.io/ISAnalytics date-released: '2020-07-03' contact: - family-names: Pais given-names: Giulia email: giuliapais1@gmail.com orcid: https://orcid.org/0009-0005-5621-4803 references: - type: article title: ISAnalytics enables longitudinal and high-throughput clonal tracking studies in hematopoietic stem cell gene therapy applications authors: - family-names: Giulia given-names: Pais - family-names: Giulio given-names: Spinozzi - family-names: Eugenio given-names: Montini - family-names: Andrea given-names: Calabria year: '2022' journal: Briefings in Bioinformatics volume: '24' issue: '1' doi: 10.1093/bib/bbac551 url: https://doi.org/10.1093/bib/bbac551 abstract: Longitudinal clonal tracking studies based on high-throughput sequencing technologies supported safety and long-term efficacy and unraveled hematopoietic reconstitution in many gene therapy applications with unprecedented resolution. However, monitoring patients over a decade-long follow-up entails a constant increase of large data volume with the emergence of critical computational challenges, unfortunately not addressed by currently available tools. Here we present ISAnalytics, a new R package for comprehensive and high-throughput clonal tracking studies using vector integration sites as markers of cellular identity. Once identified the clones externally from ISAnalytics and imported in the package, a wide range of implemented functionalities are available to users for assessing the safety and long-term efficacy of the treatment, here described in a clinical trial use case for Hurler disease, and for supporting hematopoietic stem cell biology in vivo with longitudinal analysis of clones over time, proliferation and differentiation. ISAnalytics is conceived to be metadata-driven, enabling users to focus on biological questions and hypotheses rather than on computational aspects. ISAnalytics can be fully integrated within laboratory workflows and standard procedures. Moreover, ISAnalytics is designed with efficient and scalable data structures, benchmarked with previous methods, and grants reproducibility and full analytical control through interactive web-reports and a module with Shiny interface. The implemented functionalities are flexible for all viral vector-based clonal tracking applications as well as genetic barcoding or cancer immunotherapies. issn: '-2577' identifiers: - type: url value: https://github.com//calabrialab/isanalytics - type: url value: https://calabrialab.github.io/ISAnalytics/