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Ann Hum Genet. 2007 Mar;71(Pt 2):238-48. Epub 2006 Sep 8.

Analysis of case-only studies accounting for genotyping error.

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Biostatistics Branch, Graduate Institute of Statistics, National Central University, Taiwan (ROC).


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.

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