Article

Deep multiple-instance learning accurately predicts gene haploinsufficiency and deletion pathogenicity

2023-08-31

Abstract excerpt

Copy number losses (deletions) are a major contributor to the etiology of severe genetic disorders. Although haploinsufficient genes play a critical role in deletion pathogenicity, current methods for deletion pathogenicity prediction fail to integrate multiple lines of evidence for haploinsufficiency at the gene level, limiting their power to pinpoint deleterious deletions associated with genetic disorders. Here...

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Literature Corpus work: b634e013-bc62-5088-bc73-cc5f9f6e95c7
DOI: 10.1101/2023.08.29.555384

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