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Article

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.

American journal of human genetics - 4 Sept 2025

Shaw Chad A, Williams C J, Tan Taotao, Illera Daniel, Di Nicholas, Shulman Joshua M, Belmont John W

Abstract excerpt

We present the Causal Pivot (CP) as a structural causal model (SCM) for analyzing genetic heterogeneity in complex diseases. The CP leverages an established causal factor or factors to detect the contribution of additional suspected causes. Specifically, polygenic risk scores (PRSs) serve as known causes, while rare variants (RVs) or RV ensembles are evaluated as candidate causes. The CP incorporates...

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Identifiers

PMID: 40829599
DOI: 10.1016/j.ajhg.2025.07.012
PMCID: PMC12461002

Genes

CP
BRCA1
GBA1
LDLR

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