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Behav Genet. 2010 Jul;40(4):564-71. doi: 10.1007/s10519-010-9348-y. Epub 2010 Mar 16.

"Forward genetics" as a method to maximize power and cost-efficiency in studies of human complex traits.

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  • 1Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Centre Utrecht, Utrecht, The Netherlands. mboks@umcutrecht.nl

Abstract

There is increasing interest in methods to disentangle the relationship between genotype and (endo)phenotypes in human complex traits. We present a population-based method of increasing the power and cost-efficiency of studies by selecting random individuals with a particular genotype and then assessing the accompanying quantitative phenotypes. Using statistical derivations, power- and cost graphs we show that such a "forward genetics" approach can lead to a marked reduction in sample size and costs. This approach is particularly apt for implementing in epidemiological studies for which DNA is already available but the phenotyping costs are high.

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