Article
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.
Human mutation - 1 Aug 2022
Hunt Sarah E, Moore Benjamin, Amode Ridwan M, Armean Irina M, Lemos Diana, Mushtaq Aleena, Parton Andrew, Schuilenburg Helen, Szpak Michał, Thormann Anja, Perry Emily, Trevanion Stephen J, Flicek Paul, Yates Andrew D, Cunningham Fiona
Abstract excerpt
The Ensembl Variant Effect Predictor (VEP) is a freely available, open-source tool for the annotation and filtering of genomic variants. It predicts variant molecular consequences using the Ensembl/GENCODE or RefSeq gene sets. It also reports phenotype associations from databases such as ClinVar, allele frequencies from studies including gnomAD, and predictions of deleteriousness from tools such as Sorting...
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