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Quantitative genetics of disease traits
Author(s) -
Wray N.R.,
Visscher P.M.
Publication year - 2015
Publication title -
journal of animal breeding and genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 51
eISSN - 1439-0388
pISSN - 0931-2668
DOI - 10.1111/jbg.12153
Subject(s) - annals , context (archaeology) , quantitative genetics , human genetics , biology , genetics , genetic variation , history , classics , paleontology , gene
Summary J ohn J ames authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability ( J ames A nnals of H uman G enetics , 1971; 35 : 47; R eich, J ames and M orris A nnals of H uman G enetics , 1972; 36 : 163). These two papers are J ohn J ames’ most cited papers (198 and 328 citations, N ovember 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case–control data and review recent applications in human genetics.