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The Ensembl Variant Effect Predictor

William M. McLaren,Laurent Gil,5 Authors,Fiona Cunningham

2016 · DOI: 10.1186/s13059-016-0974-4
Genome Biology · 7,249 Citations

TLDR

The Ensembl Variant Effect Predictor can simplify and accelerate variant interpretation in a wide range of study designs.

Abstract

The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding regions. It provides access to an extensive collection of genomic annotation, with a variety of interfaces to suit different requirements, and simple options for configuring and extending analysis. It is open source, free to use, and supports full reproducibility of results. The Ensembl Variant Effect Predictor can simplify and accelerate variant interpretation in a wide range of study designs.