The Ensembl Variant Effect Predictor

William McLaren(European Bioinformatics Institute), Laurent Gil(European Bioinformatics Institute), Sarah Hunt(European Bioinformatics Institute), Harpreet Singh Riat(European Bioinformatics Institute), Graham R. S. Ritchie(European Bioinformatics Institute), Anja Thormann(European Bioinformatics Institute), Paul Flicek(European Bioinformatics Institute), Fiona Cunningham(European Bioinformatics Institute)
Genome biology
June 6, 2016
Cited by 8,671Open Access
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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.


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