The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity
Abstract
We propose an extended Gaussian mixture model for the distribution of causal effects of common single nucleotide polymorphisms (SNPs) for human complex phenotypes that depends on linkage disequilibrium (LD) and heterozygosity (H), while also allowing for independent components for small and large effects. Using a precise methodology showing how genome-wide association studies (GWASs) summary statistics (z-scores) arise through LD with underlying...
Paper Details
Title
The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity
Published Date
Jan 21, 2021
Journal
Volume
217
Issue
3
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