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The Ensembl Variant Effect Predictor.

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.

SUBMITTER: McLaren W

PROVIDER: S-EPMC4893825 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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The Ensembl Variant Effect Predictor.

McLaren William W Gil Laurent L Hunt Sarah E SE Riat Harpreet Singh HS Ritchie Graham R S GR Thormann Anja A Flicek Paul P Cunningham Fiona F

Genome biology 20160606 1

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 varian ...[more]

PMID: 27268795

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