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High-throughput genotyping of single nucleotide polymorphisms using new biplex invader technology

Abstract
The feasibility of large-scale genome-wide association studies of complex human disorders depends on the availability of accurate and efficient genotyping methods for single nucleotide polymorphisms (SNPs). We describe a new platform of the invader assay, a biplex assay, where both alleles are interrogated in a single reaction tube. The assay was evaluated on over 50 different SNPs, with over 20 SNPs genotyped in study cohorts of over 1500 individuals. We assessed the usefulness of the new platform in high-throughput genotyping and compared its accuracy to genotyping results obtained by the traditional monoplex invader assay, TaqMan genotyping and sequencing data. We present representative data for two SNPs in different genes (CD36 and protein tyrosine phosphatase 1β) from a study cohort comprising over 1500 individuals with high or low-normal blood pressure. In this high-throughput application, the biplex invader assay is very accurate, with an error rate of

Publication details
Download http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=117295
Publisher Oxford University Press
Repository PubMed Central (PMC3 - NLM DTD) (United States)
Keywords NAR Methods Online
Type Text
Language Englisch