Article

The Causal Pivot: A Structural Approach to Genetic Heterogeneity and Variant Discovery in Complex Diseases

2024-11-03

Abstract excerpt

We present the Causal Pivot (CP) as a structural causal model (SCM) for analyzing genetic heterogeneity in complex diseases. The CP leverages one established causal factor to detect the contribution of a second suspected cause. Specifically, polygenic risk scores (PRS) serve as known causes, while rare variants (RV) or RV ensembles are evaluated as candidate causes. The CP incorporates outcome-induced association...

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Literature Corpus work: 0eb8f1b2-36da-5811-95d9-87f04fa22251
DOI: 10.1101/2024.11.03.621751

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