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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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Detalhes bibliográficos
Publicado no:NPJ Breast Cancer
Main Authors: Hart, Steven N., Polley, Eric C., Shimelis, Hermella, Yadav, Siddhartha, Couch, Fergus J.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7190647/
https://ncbi.nlm.nih.gov/pubmed/32377563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41523-020-0159-x
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