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

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

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.

MeSH terms

  • Computational Biology / methods
  • Computational Biology / statistics & numerical data
  • Genetics, Population / economics*
  • Genetics, Population / methods*
  • Genetics, Population / statistics & numerical data*
  • Genome-Wide Association Study / methods*
  • Genome-Wide Association Study / statistics & numerical data*
  • Genotype
  • Humans
  • Models, Genetic*
  • Phenotype
  • Quantitative Trait, Heritable