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

PLoS Genet · 2013 · PMC3578756 · PMID 23437004

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marginally significantno p-value reported

Genes evolving according to this model exhibit a characteristic GWAS signature consisting of an excess of marginally significant markers.

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highly significantno p-value reported

Such studies have identified highly significant and replicable associations, and as a result have uncovered entirely new pathways contributing to complex disease risk ( http://www.genome.gov/gwastudies/ ).

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