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PMID: 27268795 Published · epublish English Journal Article Research Support, Non-U.S. Gov't

The Ensembl Variant Effect Predictor.

Genome biology ·Vol. 17 ·No. 1 ·2016-00-06 ·Pages 122

McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F

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
MeSH Terms
Computational Biology Databases, Nucleic Acid Genetic Variation Genomics Humans Internet Molecular Sequence Annotation/methods Software
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
McLaren William
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. wm2@ebi.ac.uk.
Gil Laurent
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Hunt Sarah E
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Riat Harpreet Singh
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Ritchie Graham R S
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Thormann Anja
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Flicek Paul
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Cunningham Fiona
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. fiona@ebi.ac.uk.
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Article Info
Journal
Genome biology
Abbr.
Genome Biol
ISSN
1474-760X
DOI
10.1186/s13059-016-0974-4
Email
wm2@ebi.ac.uk
fiona@ebi.ac.uk
Published
2016-00-06
Epub
2016-00-06
Pages
122
Language
English
Region
England
NLM ID
100960660
PMCID
PMC4893825
Subset
IM
Grants
Wellcome Trust · United Kingdom
Wellcome Trust · WT095908 · United Kingdom
Wellcome Trust · WT098051 · United Kingdom
External Links
PubMed source DOI: 10.1186/s13059-016-0974-4 PMC Full Text View journal details
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