Article

Cross-protein transfer learning substantially improves disease variant prediction

2022-11-17

Abstract excerpt

Genetic variation in the human genome is a major determinant of individual disease risk, but the vast majority of missense variants have unknown etiological effects. Here, we present a robust learning framework for leveraging saturation mutagenesis experiments to construct accurate computational predictors of proteome-wide missense variant pathogenicity. We train cross-protein transfer (CPT) models using deep muta...

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Literature Corpus work: e312d747-ea90-594a-bdcd-677c0e5e2a31
DOI: 10.1101/2022.11.15.516532

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