The effect that genotyping errors have on the robustness of common linkage-disequilibrium measures

Joshua M. Akey, Kun Zhang, Momiao Xiong, Peter Doris, Li Jin

Research output: Contribution to journalArticlepeer-review

96 Scopus citations


The rapid development of a dense single-nucleotide-polymorphism marker map has stimulated numerous studies attempting to characterize the magnitude and distribution of background linkage disequilibrium (LD) within and between human populations. Although genotyping errors are an inherent problem in all LD studies, there have been few systematic investigations documenting their consequences on estimates of background LD. Therefore, we derived simple deterministic formulas to investigate the effect that genotyping errors have on four commonly used LD measures - D′, r, Q, and d - in studies of background LD. We have found that genotyping error rates as small as 3% can have serious affects on these LD measures, depending on the allele frequencies and the assumed error model. Furthermore, we compared the robustness of D′, r, Q, and d, in the presence of genotyping errors. In general, Q and d are more robust than D′ and r, although exceptions do exist. Finally, through stochastic simulations, we illustrate how genotyping errors can lead to erroneous inferences when measures of LD between two samples are compared.

Original languageEnglish (US)
Article number61055
Pages (from-to)1447-1456
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number6
StatePublished - 2001
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics


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