Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial

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, al...

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Gepubliceerd in:Hum Mutat
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2022
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7613081/
https://ncbi.nlm.nih.gov/pubmed/34816521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24298
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