Premium
Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium
Author(s) -
Pfeiffer Ruth M.,
Rutter Joni L.,
Gail Mitchell H.,
Struewing Jeffery,
Gastwirth Joseph L.
Publication year - 2002
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.1046
Subject(s) - linkage disequilibrium , disequilibrium , pooling , genetics , linkage (software) , allele , measure (data warehouse) , biology , allele frequency , haplotype , computer science , gene , medicine , data mining , artificial intelligence , ophthalmology
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. Genet. Epidemiol. 22:94–102, 2002. © 2002 Wiley‐Liss, Inc.