VariantAnnotation
VariantAnnotation annotates and enables exploration of genetic variants from VCF files for genomic analysis by integrating with R/Bioconductor.
Key Features:
- VCF File Management: Provides functions to read, write, and filter variant call format (VCF) files for handling large variant datasets.
- Variant Annotation: Performs annotation of genetic variants with relevant genomic information.
- Integration with R/Bioconductor: Leverages R and Bioconductor data structures and packages to enable downstream analyses.
- Statistical Analysis: Enables advanced statistical analyses of variant data through integration with R/Bioconductor tools.
- Data Transformation and Visualization: Supplies utilities for transforming variant data and generating visualizations.
- Data Integration with Genomic Resources: Connects variant data to diverse genomic resources for comprehensive analyses.
Scientific Applications:
- Genetic Variant Annotation: Annotates variants to assess potential biological impacts and genomic context.
- Statistical Analysis of Variants: Supports identification and interpretation of significant genetic variations using R/Bioconductor methods.
- Integrated Genomic Studies: Enables studies that combine variant calls with other genomic data types and resources.
Methodology:
Implemented in R; provides functions to read, write, and filter VCF files, annotate variants, and integrates with R/Bioconductor for statistical analysis, data transformation, visualization, and connection to genomic resources.
Topics
Collections
Details
- License:
- Artistic-2.0
- Tool Type:
- command-line tool, library
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- R
- Added:
- 1/17/2017
- Last Updated:
- 1/10/2019
Operations
Publications
Obenchain V, Lawrence M, Carey V, Gogarten S, Shannon P, Morgan M. <tt>VariantAnnotation</tt> : a <tt>Bioconductor</tt> package for exploration and annotation of genetic variants. Bioinformatics. 2014;30(14):2076-2078. doi:10.1093/bioinformatics/btu168. PMID:24681907. PMCID:PMC4080743.