Article
Potential synthetic associations created by epistasis
6 Oct 2025
Abstract excerpt
The prevalence of synthetic associations in GWAS, where non-causal variants become significant by tagging multiple undetected causal variants and not necessarily in strong linkage disequilibrium with any single one, remains unexplored. We introduce a novel machine-learning approach using only genotype data to infer such associations in human GWAS. Our analysis reveals that 3-5% of GWAS Catalog peaks may represent...
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