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

Abstract 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 per...

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Bibliographic Details
Main Authors: Moonjong Kang, Seonhwa Kim, Da-Bin Lee, Changbum Hong, Kyu-Baek Hwang
Format: Article
Language:English
Published: Nature Portfolio 2023-06-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-37698-6