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Article

Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.

PLoS genetics - 1 Jan 2013

Thornton Kevin R, Foran Andrew J, Long Anthony D

Abstract excerpt

Current genome-wide association studies (GWAS) have high power to detect intermediate frequency SNPs making modest contributions to complex disease, but they are underpowered to detect rare alleles of large effect (RALE). This has led to speculation that the bulk of variation for most complex diseases is due to RALE. One concern with existing models of RALE is that they do not make explicit assumptions about the...

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PMID: 23437004
DOI: 10.1371/journal.pgen.1003258
PMCID: PMC3578756

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Source receipt: pubmed, retrieved 7 Sept 2026.

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