Multi-SNP association method reveals allelic heterogeneity

There are many known examples of the allelic heterogeneity and imperfect tagging phenomena. The former one is of great importance in monogenic traits but has not yet been systematically investigated and quantified in complex-trait genome-wide association studies (GWASs). We devised a multi-SNP association method that estimates the effect of loci harboring multiple association signals by using GWAS summary statistics.

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