Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.

ABSTRACT: Recent developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data, democratizing the ability to compile information on large amounts of genetic variations in individual laboratories. However, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological information. Here, we describe a protocol to use the ANNOVAR (ANNOtate VARiation) software to facilitate fast and easy variant annotations, including gene-based, region-based and filter-based annotations on a variant call format (VCF) file generated from human genomes. We further describe a protocol for gene-based annotation of a newly sequenced nonhuman species. Finally, we describe how to use a user-friendly and easily accessible web server ca

SUBMITTER: Yang H 

PROVIDER: S-EPMC4718734 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature