DNA Pooling: a tool for large-scale association studies

Nat Rev Genet. 2002 Nov;3(11):862-71. doi: 10.1038/nrg930.


DNA pooling is a practical way to reduce the cost of large-scale association studies to identify susceptibility loci for common diseases. Pooling allows allele frequencies in groups of individuals to be measured using far fewer PCR reactions and genotyping assays than are used when genotyping individuals. Here, we discuss recent developments in quantitative genotyping assays and in the design and analysis of pooling studies. Sophisticated pooling designs are being developed that can take account of hidden population stratification, confounders and inter-loci interactions, and that allow the analysis of haplotypes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • DNA*
  • Gene Frequency
  • Genetic Techniques*
  • Haplotypes
  • Humans
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*


  • DNA