The Ensembl Variant Effect Predictor

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

doi:10.1186/s13059-016-0974-4

The Ensembl Variant Effect Predictor

Genome Biol. 2016 Jun 6;17(1):122. doi: 10.1186/s13059-016-0974-4.

Authors

William McLaren¹, Laurent Gil², Sarah E Hunt², Harpreet Singh Riat², Graham R S Ritchie², Anja Thormann², Paul Flicek², Fiona Cunningham³

Affiliations

¹ European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. wm2@ebi.ac.uk.
² European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
³ European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. fiona@ebi.ac.uk.

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.

Keywords: Genome; NGS; SNP; Variant annotation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Computational Biology
Databases, Nucleic Acid
Genetic Variation*
Genomics
Humans
Internet
Molecular Sequence Annotation / methods*
Software*

Abstract

Publication types

MeSH terms

Grants and funding