Open AccessApplication of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
Author(s) -
J. Raphael Gibbs,
Andrew Singleton
Publication year - 2006
Publication title -
plos genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.587
H-Index - 233
eISSN - 1553-7404
pISSN - 1553-7390
DOI - 10.1371/journal.pgen.0020150
Subject(s) - international hapmap project , single nucleotide polymorphism , biology , snp , genetics , typing , snp array , tag snp , genetic association , computational biology , population , genome wide association study , genetic variation , genome , genotype , gene , medicine , environmental health
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.