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Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Machine learning-based pathogenicity prediction helps interpret rare missense variants of BRCA1 and BRCA2, which are associated with hereditary cancers. Recent studies have shown that classifiers trained using variants of a specific gene or a set of genes related to a particular disease perform bett...

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Detalles Bibliográficos
Autores principales: Kang, Moonjong, Kim, Seonhwa, Lee, Da-Bin, Hong, Changbum, Hwang, Kyu-Baek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10307865/
https://www.ncbi.nlm.nih.gov/pubmed/37380723
http://dx.doi.org/10.1038/s41598-023-37698-6