Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

In silico predictions of missense variants is an important consideration when interpreting variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes. We trained and evaluated hundreds of machine learning algorithms based on results from validated functional assays to better predict misse...

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Detalles Bibliográficos
Autores principales: Hart, Steven N., Polley, Eric C., Shimelis, Hermella, Yadav, Siddhartha, Couch, Fergus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190647/
https://www.ncbi.nlm.nih.gov/pubmed/32377563
http://dx.doi.org/10.1038/s41523-020-0159-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190647/
https://www.ncbi.nlm.nih.gov/pubmed/32377563
http://dx.doi.org/10.1038/s41523-020-0159-x

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