Thursday, August 23, 2012
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Assays & screens
genotyping arrays for detection of disease-associated SNP markers
The Metabochip genotyping
array could be useful for detecting disease-associated SNP markers of
endocrine, metabolic and cardiovascular diseases. The Metabochip is designed
to genotype individuals for 196,725 SNPs associated with various diseases
including coronary artery disease (CAD), myocardial infarction (MI) and type
2 diabetes, as well as SNPs linked to blood pressure and levels of lipid,
insulin and glucose. In 67 samples genotyped from a study by the
International Haplotype Map Project, the Metabochip array showed 99.9%
overall concordance with the HapMap data for common SNP variants and 98.9%
and 97.8% concordance for sets of less common SNPs. Next steps could include
developing additional custom genotyping arrays to detect sets of SNP markers
associated with other disease indications.
Published online Aug. 23, 2012
Patent and licensing status
Voight, B.F. et al. PLoS
published online Aug. 2,
Contact: Michael Boehnke, University of Michigan, Ann Arbor,
Contact: Gonçalo R. Abecasis,
same affiliation as above
Contact: Mark I. McCarthy, University of Oxford, Oxford,
Contact: David Altshuler, Broad Institute of MIT and
Harvard, Cambridge, Mass.
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