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J Anim Breed Genet. 2015 Apr;132(2):198-203. doi: 10.1111/jbg.12153.

Quantitative genetics of disease traits.

Author information

1
Queensland Brain Institute, The University of Queensland, Brisbane, Qld, Australia.

Abstract

John James 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 (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 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.

KEYWORDS:

Disease; liability; risk

PMID:
25823843
DOI:
10.1111/jbg.12153
[Indexed for MEDLINE]

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