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Article

Beyond SNP heritability: Polygenicity and discoverability of phenotypes estimated with a univariate Gaussian mixture model.

PLoS genetics - 1 May 2020

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

Abstract excerpt

Estimating the polygenicity (proportion of causally associated single nucleotide polymorphisms (SNPs)) and discoverability (effect size variance) of causal SNPs for human traits is currently of considerable interest. SNP-heritability is proportional to the product of these quantities. We present a basic model, using detailed linkage disequilibrium structure from a reference panel of 11 million SNPs, to estimate...

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Identifiers

PMID: 32427991
DOI: 10.1371/journal.pgen.1008612
PMCID: PMC7272101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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