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Updated: May 2, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Application of genome-wide single nucleotide polymorphism typing: simple association and beyond
J Raphael Gibbs1, Andrew Singleton
1Computational Biology Core, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland, United States of America.
Abstract:
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.
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