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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2022
Konular:
Article
Online Erişim: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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