TY - JOUR T1 - The Ensembl Variant Effect Predictor JF - bioRxiv DO - 10.1101/042374 SP - 042374 AU - William McLaren AU - Laurent Gil AU - Sarah E Hunt AU - Harpreet Singh Riat AU - Graham R. S. Ritchie AU - Anja Thormann AU - Paul Flicek AU - Fiona Cunningham Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/03/04/042374.abstract N2 - The Ensembl Variant Effect Predictor (VEP) is a powerful toolset for the analysis, annotation and prioritization of genomic variants, including in non-coding regions.The VEP accurately predicts the effects of sequence variants on transcripts, protein products, regulatory regions and binding motifs by leveraging the high quality, broad scope, and integrated nature of the Ensembl databases. In addition, it enables comparison with a large collection of existing publicly available variation data within Ensembl to provide insights into population and ancestral genetics, phenotypes and disease.The VEP is open source and free to use. It is available via a simple web interface (http://www.ensembl.org/vep), a powerful downloadable package, and both Ensembl’s Perl and REST application program interface (API) services. ER -