VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants.
basic_science · Level V
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- Record sourced from PubMed, PMID 24681907.
- Also identified by DOI 10.1093/bioinformatics/btu168 and PMC identifier 4080743.
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Abstract
VariantAnnotation is an R / Bioconductor package for the exploration and annotation of genetic variants. Capabilities exist for reading, writing and filtering variant call format (VCF) files. VariantAnnotation allows ready access to additional R / Bioconductor facilities for advanced statistical analysis, data transformation, visualization and integration with diverse genomic resources. This package is implemented in R and available for download at the Bioconductor Web site (http://bioconductor.org/packages/2.13/bioc/html/VariantAnnotation.html). The package contains extensive help pages for individual functions and a 'vignette' outlining typical work flows; it is made available under the open source 'Artistic-2.0' license. Version 1.9.38 was used in this article.
Medical subject headings
- Genetic Variation
- Molecular Sequence Annotation
- Software