Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

PLoS Genet. 2006 Oct 6;2(10):e150. doi: 10.1371/journal.pgen.0020150.


The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor. This has sparked considerable debate regarding the promise of GW-SNP typing to identify genetic association in disease. As has already been shown, this approach has the potential to localize common genetic variation underlying disease risk. The data provided from this technology also lends itself to several other lines of investigation; autozygosity mapping in consanguineous families and outbred populations, direct detection of structural variation, admixture analysis, and other population genetic approaches. In this review we will discuss the potential uses and practical application of GW-SNP typing including those above and beyond simple association testing.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Chromosomes, Human / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Population / methods*
  • Genome, Human / genetics*
  • Homozygote
  • Humans
  • Polymorphism, Single Nucleotide / genetics*