VariantAnnotation

VariantAnnotation is an R package to facilitate the exploration and annotation of genetic variants. It provides a robust set of tools for manipulating variant call format (VCF) files, including capabilities for reading, writing, and filtering these files. The package enables researchers to easily access and integrate a wide range of additional R/Bioconductor resources for advanced statistical analysis, data transformation, and visualization and for leveraging diverse genomic resources.

Topic

Whole genome sequencing;DNA polymorphism

Detail

  • Operation: Polymorphism detection;SNP annotation;Variant classification

  • Software interface: Command-line user interface,Library

  • Language: R

  • License: Artistic License 2.0

  • Cost: Free

  • Version name: 1.48.1

  • Credit: National Human Genome Research Institute of the National Institutes of Health.

  • Input: Sequence variations [VCF], Sequence alignment [VCF]

  • Output: -

  • Contact: Bioconductor Package Maintainer maintainer@bioconductor.org

  • Collection: -

  • Maturity: Stable

Publications

  • VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants.
  • Obenchain V, et al. VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants. VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants. 2014; 30:2076-8. doi: 10.1093/bioinformatics/btu168
  • https://doi.org/10.1093/bioinformatics/btu168
  • PMID: 24681907
  • PMC: PMC4080743

Download and documentation

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