Article
Genetic analyses of eight complex diseases using predicted continuous representations of disease.
Cell reports methods - 18 Aug 2025
Chen Robert, Rocheleau Ghislain, Petrazzini Ben Omega, Forrest Iain S, Park Joshua K, Duffy Áine, Vy Ha My T, Jordan Daniel, Do Ron
Abstract excerpt
We evaluated whether predicted continuous disease representations could enhance genetic discovery beyond case-control genome-wide association study (GWAS) phenotypes across eight complex diseases in up to 485,448 UK Biobank participants. Predicted phenotypes had high genetic correlations with case-control phenotypes (median rg = 0.66) but identified more independent associations (median 306 versus 125). While...
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