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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613081/
https://www.ncbi.nlm.nih.gov/pubmed/34816521
http://dx.doi.org/10.1002/humu.24298

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