gatk_variant_annotator

gatk_variant_annotator annotates variant calls with configurable annotations to provide biological and technical context for interpretation of genomic data.


Key Features:

  • Configurable annotations: Allows selection of specific annotation types to apply to VCF variant calls.
  • Integration with Galaxy platform: Integrated with the Galaxy platform to execute annotation workflows.
  • High-performance computing execution: Supports execution of workflows on high-performance computing clusters via Galaxy.
  • API and Bioblend communication: Communicates with Galaxy using the Galaxy API or the Bioblend library.

Scientific Applications:

  • Genomic research: Annotates variant calls to support studies of disease mechanisms, evolutionary biology, and personalized medicine.
  • Metagenomics and phylogenetics: Integration with platforms such as MetaGenSense and NGphylogeny.fr suggests potential applicability to metagenomic analyses and phylogenetic studies.

Methodology:

Executes variant annotation workflows through the Galaxy platform, using Galaxy as the execution engine and communicating via the Galaxy API or the Bioblend library.

Topics

Collections

Details

Maturity:
Mature
Tool Type:
web application
Operating Systems:
Linux, Windows, Mac
Programming Languages:
Java
Added:
12/19/2016
Last Updated:
4/20/2021

Operations

Publications

Bauer D, Bauer D. Variant calling comparison CASAVA1.8 and GATK. Nature Precedings. 2011. doi:10.1038/npre.2011.6107.

Mareuil F, Doppelt-Azeroual O, Ménager H. A public Galaxy platform at Pasteur used as an execution engine for web services. Unknown Journal. 2017. doi:10.7490/f1000research.1114334.1.

Documentation

Links

Related Tools

gatk
Relation: includedIn