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.

Documentation

Downloads