Vcfanno: fast, flexible annotation of genetic variants.
Ontology highlight
ABSTRACT:
SUBMITTER: Pedersen BS
PROVIDER: S-EPMC4888505 | biostudies-other | 2016 Jun
REPOSITORIES: biostudies-other
Publications
Vcfanno: fast, flexible annotation of genetic variants.
Pedersen Brent S BS Layer Ryan M RM Quinlan Aaron R AR
Genome biology 20160601 1
The integration of genome annotations is critical to the identification of genetic variants that are relevant to studies of disease or other traits. However, comprehensive variant annotation with diverse file formats is difficult with existing methods. Here we describe vcfanno, which flexibly extracts and summarizes attributes from multiple annotation files and integrates the annotations within the INFO column of the original VCF file. By leveraging a parallel "chromosome sweeping" algorithm, we ...[more]
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