Article

Improving polygenic risk prediction performance through integrating electronic health records by phenotype embedding

2025-08-07

Abstract excerpt

Large-scale biobanks provide comprehensive electronic health records (EHRs) that capture detailed clinical phenotypes, potentially enhancing disease risk prediction. However, traditional polygenic risk score (PRS) methods rely on simplified phenotype definitions or predefined trait sets, limiting their ability to represent the intricate phenotypic structures embedded within EHRs. To address this gap, we introduce...

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Literature Corpus work: 8492231e-4ef8-5c2b-9b44-9396d88b8831
DOI: 10.1101/2025.08.05.668705

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