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Type: Journal article
Title: Ascertainment adjustment: Where does it take us?
Author: Burton, P.
Palmer, L.
Jacobs, K.
Keen, K.
Olson, J.
Elston, R.
Citation: American Journal of Human Genetics, 2000; 67(6):1505-1514
Publisher: Elsevier
Issue Date: 2000
ISSN: 0002-9297
Statement of
Paul R. Burton, Lyle J. Palmer', Kevin Jacobs, Kevin J. Keen, Jane M. Olson and Robert C. Elston
Abstract: It is commonly assumed that the parameter estimates of a statistical genetics model that has been adjusted for ascertainment will estimate parameters in the general population from which the ascertained subpopulation was originally drawn. We show that this is true only in certain restricted circumstances. More generally, ascertainment-adjusted parameter estimates reflect parameters in the ascertained subpopulation. In many situations, this shift in perspective is immaterial: the parameters of interest are the same in the ascertained sample and in the population from which it was drawn, and it is therefore irrelevant to which population inferences are presumed to apply. In other circumstances, however, this is not so. This has important implications, particularly for studies investigating the etiology of complex diseases.
Keywords: Humans
Genetic Diseases, Inborn
Likelihood Functions
Sampling Studies
Family Characteristics
Nuclear Family
Models, Genetic
Computer Simulation
Rights: © 2000 by The American Society of Human Genetics. All rights reserved.
DOI: 10.1086/316899
Grant ID:
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