Package: RareVariantVis
Type: Package
Title: A suite for analysis of rare genomic variants in whole genome
        sequencing data
Version: 2.37.0
Date: 2018-04-15
Author: Adam Gudys and Tomasz Stokowy
Maintainer: Tomasz Stokowy <tomasz.stokowy@k2.uib.no>
Description: 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.
License: Artistic-2.0
Depends: BiocGenerics, VariantAnnotation, googleVis, GenomicFeatures
Imports: S4Vectors, IRanges, GenomeInfoDb, GenomicRanges, gtools,
        BSgenome, BSgenome.Hsapiens.UCSC.hg19,
        TxDb.Hsapiens.UCSC.hg19.knownGene, phastCons100way.UCSC.hg19,
        SummarizedExperiment, GenomicScores
Suggests: knitr
VignetteBuilder: knitr
biocViews: GenomicVariation, Sequencing, WholeGenome
NeedsCompilation: no
git_url: https://git.bioconductor.org/packages/RareVariantVis
git_branch: devel
git_last_commit: 76b51ab
git_last_commit_date: 2025-04-15
Repository: Bioconductor 3.22
Date/Publication: 2025-06-04
Packaged: 2025-06-05 01:28:00 UTC; biocbuild
Built: R 4.5.0; ; 2025-06-05 13:45:41 UTC; windows
