Analysis of case-only studies accounting for genotyping error

K. F. Cheng

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


The case-only design provides one approach to assess possible interactions between genetic and environmental factors. It has been shown that if these factors are conditionally independent, then a case-only analysis is not only valid but also very efficient. However, a drawback of the case-only approach is that its conclusions may be biased by genotyping errors. In this paper, our main aim is to propose a method for analysis of case-only studies when these errors occur. We show that the bias can be adjusted through the use of internal validation data, which are obtained by genotyping some sampled individuals twice. Our analysis is based on a simple and yet highly efficient conditional likelihood approach. Simulation studies considered in this paper confirm that the new method has acceptable performance under genotyping errors.

Original languageEnglish
Pages (from-to)238-248
Number of pages11
JournalAnnals of Human Genetics
Issue number2
Publication statusPublished - Mar 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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