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PheCode-guided multi-modal topic modeling of electronic health records improves disease incidence prediction and GWAS discovery from UK Biobank

2025-05-28

Abstract excerpt

Phenome-wide association studies (PheWAS) rely on disease definitions derived from diagnostic codes, often failing to leverage the full richness of electronic health records (EHR). We present MixEHR-SAGE, a PheCode-guided multi-modal topic model that integrates diagnoses, procedures, and medications to enhance phenotyping from large-scale EHRs. By combining expert-informed priors with probabilistic inference, MixE...

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Literature Corpus work
145b23d4-cc59-5edc-9b38-e4efea3ee2df
DOI
10.1101/2025.05.28.25328511
Open publication

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PheCode-guided multi-modal topic modeling of electronic health records improves disease incidence prediction and GWAS discovery from UK BiobankDOI 10.1101/2025.05.28.25328511
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