The Ensembl Variant Effect Predictor View Full Text


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Article Info

DATE

2016-12

AUTHORS

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

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. More... »

PAGES

122

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13059-016-0974-4

    DOI

    http://dx.doi.org/10.1186/s13059-016-0974-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1005070991

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27268795


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