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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Argitaratua izan da:Hum Mutat
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2022
Gaiak:
Article
Sarrera elektronikoa: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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