Parametric model-based statistics for possible genotyping errors and sample stratification in sibling-pair SNP data

Michael Korostishevsky, Ida Malkin, Tim Spector, Gregory Livshits

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


The detection of genotyping errors, based on apparent Mendelian incompatibilities in a sample of sib-pairs, is a complicated problem. In the case of a single marker and unknown parental genotypes, all combinations of sib-pair genotypes are self-consistent. Moreover, the observed deviation from equilibrium genotype frequencies may result from genotyping errors as well as from the sample's stratification. This in turn, may profoundly affect the results of association and linkage analyses, and therefore an estimation of these factors should be done beforehand. Here we present several parametric models, and using likelihood ratio statistics, we suggest a method of combined analysis of genotyping errors and a sample stratification for randomly ascertained sib-pair single nucleotide polymorphism (SNP) data. Specifically, we implemented two models of genotyping errors in either heterozygotes or homozygotes, and two models of sample stratification resulting from either the presence of families of different ethnic origin (e.g., a population admixture) or from a different ethnic origin of the parents in the family (e.g., intermarriage). The power of this method was established by Monte Carlo data simulation. The results clearly suggest that the proposed method is most efficient for detecting genotyping errors in heterozygotes, a common error caused by incorrect SNP data interpretation. We also provide an example of its application to real data.

Original languageEnglish
Pages (from-to)26-33
Number of pages8
JournalGenetic Epidemiology
Issue number1
StatePublished - Jan 2010
Externally publishedYes


  • Admixture
  • Genotyping errors
  • Hardy-Weinberg equilibrium test
  • Intermarriage
  • Monte Carlo simulations
  • Sib-pair sample
  • Single nucleotide polymorphism


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