The Ensembl Variant Effect Predictor

McLaren, William; Gil, Laurent; Hunt, Sarah; Riat, Harpreet Singh; Ritchie, Graham R. S.; Thormann, Anja; Flicek, Paul; Cunningham, Fiona

doi:10.1186/s13059-016-0974-4

articleGenome biologyJun 6, 2016GOLD OA

The Ensembl Variant Effect Predictor

WMWilliam McLaren LGLaurent Gil SHSarah Hunt HSHarpreet Singh Riat GRGraham R. S. Ritchie

European Bioinformatics Institute

PubMed

Indexed incrossrefdoajpubmed

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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Topics & keywords

Topics

Keywords

Ensembl
Annotation
Prioritization
Computational biology
Biology
Coding (social sciences)
Human genetics
Genomics

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