Ascertainment bias in estimates of average heterozygosity

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Publication Type Journal Article
School or College School of Medicine; College of Social & Behavioral Science
Department Anthropology; Human Genetics
Creator Rogers, Alan R.; Jorde, Lynn B.
Title Ascertainment bias in estimates of average heterozygosity
Date 1996-05
Description Population geneticists work with a nonrandom sample of the human genome. Conventional practice ensures that unusually variable loci are most likely to be discovered and thus included in the sample of loci. Consequently, estimates of average heterozygosity are biased upward. In what follows we describe a model of this bias. When the mutation rate varies among loci, bias is increased. This effect is only moderate, however, so that a model of invariant mutation rates provides a reasonable approximation. Bias is pronounced when estimated heterozygosity is < approximately 35% Consequently, it probably affects estimates from classical polymorphisms as well as from restriction-site polymorphisms. Estimates from short-tandem-repeat polymorphisms have negligible bias, because of their high heterozygosity. Bias should vary not only among categories of polymorphism but also among populations. It should be largest in European populations, since these are the populations in which most polymorphisms were discovered. As this argument predicts, European estimates exceed those of Africa and Asia at systems with large bias. The magnitude of this European excess is consistent with the version of our model in which mutation rates vary across loci.
Type Text
Publisher University of Chicago Press
First Page 1033
Last Page 1041
Subject Bias (Epidemiology); Biometry; Heterozygote
Subject MESH Models, Genetic; Genetics, Population
Language eng
Bibliographic Citation Rogers, A. R., & Jorde, L. B. (1996). Ascertainment bias in estimates of average heterozygosity. American Journal of Human Genetics, 58, 1033-41.
Rights Management (c) University of Chicago Press
Format Medium application/pdf
Format Extent 1,286,118 bytes
Identifier ir-main,1849
ARK ark:/87278/s67h22w3
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2021-05-06
ID 704164
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