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Mathematical bounds on r2 and the effect size in case-control genome-wide association studies.

Theoretical population biology - 1 Aug 2025

Paye Sanjana M, Edge Michael D

Abstract excerpt

Case-control genome-wide association studies (GWAS) are often used to find associations between genetic variants and diseases. When case-control GWAS are conducted, researchers must make decisions regarding how many cases and how many controls to include in the study. Connections between variants and diseases are made using association statistics, including χ2. Previous work in population genetics has shown that...

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Identifiers

PMID: 40381956
DOI: 10.1016/j.tpb.2025.04.003
PMCID: PMC12259364

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