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The Ensembl Variant Effect Predictor.

Authors :
McLaren W
Gil L
Hunt SE
Riat HS
Ritchie GR
Thormann A
Flicek P
Cunningham F
Source :
Genome biology [Genome Biol] 2016 Jun 06; Vol. 17 (1), pp. 122. Date of Electronic Publication: 2016 Jun 06.
Publication Year :
2016

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.

Details

Language :
English
ISSN :
1474-760X
Volume :
17
Issue :
1
Database :
MEDLINE
Journal :
Genome biology
Publication Type :
Academic Journal
Accession number :
27268795
Full Text :
https://doi.org/10.1186/s13059-016-0974-4