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Article

The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity.

Genetics - 31 Mar 2021

Holland Dominic, Frei Oleksandr, Desikan Rahul, Fan Chun-Chieh, Shadrin Alexey A, Smeland Olav B, Andreassen Ole A, Dale Anders M

Abstract excerpt

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)...

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Identifiers

PMID: 33789345
DOI: 10.1093/genetics/iyaa046
PMCID: PMC8045737

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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