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Am J Hum Genet. 2007 Mar;80(3):567-76. Epub 2007 Jan 30.

Efficient association mapping of quantitative trait loci with selective genotyping.

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  • 1Department of Biostatistics, University of North Carolina, Chapel Hill 27599-7420, USA.


Selective genotyping (i.e., genotyping only those individuals with extreme phenotypes) can greatly improve the power to detect and map quantitative trait loci in genetic association studies. Because selection depends on the phenotype, the resulting data cannot be properly analyzed by standard statistical methods. We provide appropriate likelihoods for assessing the effects of genotypes and haplotypes on quantitative traits under selective-genotyping designs. We demonstrate that the likelihood-based methods are highly effective in identifying causal variants and are substantially more powerful than existing methods.

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