Article

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

2023-03-31

Abstract excerpt

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 better than those trained using all variants, due to their higher specificity, despite the smaller training dataset size...

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Literature Corpus work: 8a263f30-80aa-5cfc-a566-7139d60006bb
DOI: 10.21203/rs.3.rs-2716687/v1

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