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Incorporating phenotype heterogeneity in disease GWAS improves power while maintaining specificity

2026-03-27

Abstract excerpt

Common complex diseases are clinically heterogeneous, yet most genome-wide association studies (GWAS) assume cases are genetically homogeneous. This challenge is compounded in large-scale biobanks, which increasingly combine cases ascertained under different recruitment strategies, raising concerns that heterogeneous case definitions may dilute genetic signal. To address this, we developed StratGWAS, a scalable fr...

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Literature Corpus work
820b5645-5e0d-5f53-b621-af2e04f435d4
DOI
10.64898/2026.03.26.26349370
Open publication

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Incorporating phenotype heterogeneity in disease GWAS improves power while maintaining specificityDOI 10.64898/2026.03.26.26349370
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