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.
%0 Journal Article
%1 mclaren2016ensembl
%A McLaren, William
%A Gil, Laurent
%A Hunt, Sarah E
%A Riat, Harpreet Singh
%A Ritchie, Graham RS
%A Thormann, Anja
%A Flicek, Paul
%A Cunningham, Fiona
%D 2016
%I Springer
%J Genome Biology
%K annotation dna-sequencing fulltext shouldread snp snv software variant-calling
%N 1
%P 122
%R https://doi.org/10.1186/s13059-016-0974-4
%T The Ensembl Variant Effect Predictor
%U https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0974-4
%V 17
@article{mclaren2016ensembl,
added-at = {2020-09-27T14:46:38.000+0200},
author = {McLaren, William and Gil, Laurent and Hunt, Sarah E and Riat, Harpreet Singh and Ritchie, Graham RS and Thormann, Anja and Flicek, Paul and Cunningham, Fiona},
biburl = {https://www.bibsonomy.org/bibtex/2cb12a00a787deaa83d5e9818ac32cb6c/marcsaric},
description = {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. },
doi = {https://doi.org/10.1186/s13059-016-0974-4},
interhash = {5a93a349a50792dff7f9cf91d2443eaa},
intrahash = {cb12a00a787deaa83d5e9818ac32cb6c},
journal = {Genome Biology},
keywords = {annotation dna-sequencing fulltext shouldread snp snv software variant-calling},
number = 1,
pages = 122,
publisher = {Springer},
timestamp = {2020-09-27T14:52:46.000+0200},
title = {The Ensembl Variant Effect Predictor},
url = {https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0974-4},
volume = 17,
year = 2016
}