Publications Search

Abstract

Title: Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium.
Author: Pfeiffer RM, Rutter JL, Gail MH, Struewing J, Gastwirth JL
Journal: Genet Epidemiol 22(1):94-102
Year: 2002
Month: January

Abstract: Pooling DNA samples can yield efficient estimates of the prevalence of genetic variants. We extend methods of analyzing pooled DNA samples to estimate the joint prevalence of variants at two or more loci. If one has a sample from the general population, one can adapt the method for joint prevalence estimation to estimate allele frequencies and D, the measure of linkage disequilibrium. The parameter D is fundamental in population genetics and in determining the power of association studies. In addition, joint allelic prevalences can be used in case-control studies to estimate the relative risks of disease from joint exposures to the genetic variants. Our methods allow for imperfect assay sensitivity and specificity. The expected savings in numbers of assays required when pooling is utilized compared to individual testing are quantified.