article Open AccessTop 1% cited
The Ensembl Variant Effect Predictor
Genome biology · 2016 · Vol. 17(1) · pp. 122–122
William McLaren✉(European Bioinformatics Institute)Laurent Gil(European Bioinformatics Institute)Sarah Hunt(European Bioinformatics Institute)Harpreet Singh Riat(European Bioinformatics Institute)Graham R. S. Ritchie(European Bioinformatics Institute)Anja Thormann(European Bioinformatics Institute)Paul Flicek(European Bioinformatics Institute)Fiona Cunningham(European Bioinformatics Institute)
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.
Genetic Associations and EpidemiologyGenomics and Rare DiseasesGene expression and cancer classificationEnsemblAnnotationPrioritizationComputational biologyBiologyCoding (social sciences)Human geneticsGenomicsComputer scienceBioinformatics
MeSH terms
HumansSoftwareGenetic VariationComputational BiologyInternetGenomicsDatabases, Nucleic AcidMolecular Sequence Annotation
Funding
- Wellcome Trust
- European Molecular Biology Laboratory
- European Commission
Citations
8,489
FWCI
366.55
field-weighted impact
References
75
Percentile
100%
vs. same field & year
Citations per year
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