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

Abstract excerpt

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

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