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John W. Belmont, C.J. Williams, Chad A. Shaw
The paper introduces the Probability of Necessity (PN) to assess genetic diagnosis, showing it differs from penetrance and can resolve variant classification ambiguity in diseases like ischemic heart disease and Parkinson's.
medRxiv · Oct 4, 2026 · PreprintGenetic & Genomic Medicine
Chad A. Shaw, C.J. Williams, Taotao Tan, Daniel Illera, Na Di, Joshua M Shulman, John W. Belmont
The paper introduces the Causal Pivot (CP) method to detect causal genetic variants in complex diseases using structural causal models and applies it to UK Biobank data for three diseases.
The American Journal of Human Genetics · Aug 18, 2025Peer-reviewedGenetics