The Ensembl Variant Effect Predictor

被引：5037

作者：

McLaren, William ^{[1
]}

Gil, Laurent ^{[1
]}

Hunt, Sarah E. ^{[1
]}

Riat, Harpreet Singh ^{[1
]}

Ritchie, Graham R. S. ^{[1
]}

Thormann, Anja ^{[1
]}

Flicek, Paul ^{[1
]}

Cunningham, Fiona ^{[1
]}

机构：

[1] European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge CB10 1SD, England

来源：

GENOME BIOLOGY | 2016年 / 17卷

基金：

英国惠康基金;

关键词：

Variant annotation; NGS; Genome; SNP; SINGLE NUCLEOTIDE POLYMORPHISMS; COMPLEX TRAITS; GENOME; SEQUENCE; DATABASE; ANNOTATION; MUTATIONS; SNP; CONSEQUENCES; GENCODE;

D O I：

10.1186/s13059-016-0974-4

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

引用

页数：14

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