ArticleNature genetics2025
Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores.
Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.PLoS genetics · 2025Article
- Integrating large scale genetic and clinical information to predict cases of heart failure.Communications medicine · 2025Article
- Genome-wide association studies identify 77 loci for suicidality and provide novel biological insights.medRxiv : the preprint server for health sciences · 2025Article
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Authors and funding
11 authors.
Funding
Abstract
Electronic health record (EHR)-based phenotype risk scores (PheRS) leverage individuals' health trajectories to estimate disease risk, similar to how polygenic scores (PGS) use genetic information. While PGS generalizability has been studied, less is known about PheRS generalizability across healthcare systems and whether PheRS are complementary to PGS. We trained elastic-net-based PheRS to predict the onset of 13 common diseases for 845,929 individuals (age = 32-70 years) from three biobank-based studies in Finland (FinnGen), the UK (UKB) and Estonia (EstB). All PheRS were statistically significantly associated with the diseases of interest and most generalized well without retraining when applied to other studies. PheRS and PGS were only moderately correlated and models including both predictors improved onset prediction compared to PGS alone for 8 of 13 diseases. Our results indicate that EHR-based risk scores can transfer well between EHRs, capture largely independent information from PGS, and provide additive benefits for disease risk prediction.
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