High-Throughput SNP Genotyping.pdfVIP

Comparative and Functional Genomics Comp Funct Genom 2002; 3: 57–66. DOI: 10.1002/cfg.130 Review High-throughput SNP genotyping Suzanne Jenkins* and Neil Gibson RD Genetics, AstraZeneca, Mereside, Alderley Park, Macclesfield, Cheshire, SK10 4TG, UK *Correspondence to: Abstract Suzanne Jenkins, RD Genetics, AstraZeneca, Mereside, Alderley Whole genome approaches using single nucleotide polymorphism (SNP) markers have the Park, Macclesfield, Cheshire, potential to transform complex disease genetics and expedite pharmacogenetics research. SK10 4TG, UK. This has led to a requirement for high-throughput SNP genotyping platforms. E-mail: suzanne.jenkins@ Development of a successful high-throughput genotyping platform depends on coupling reliable assay chemistry with an appropriate detection system to maximise efficiency with respect to accuracy, speed and cost. Current technology platforms are able to deliver throughputs in excess of 100 000 genotypes per day, with an accuracy of 99%, at a cost of 20–30 cents per genotype. In order to meet the demands of the coming years, however, genotyping platforms need to deliver throughputs in the order of one million genotypes per day at a cost of only a few cents per genotype. In addition, DNA template requirements must be minimised such that hundreds of thousands of SNPs can be interrogated using a relatively small amount of genomic DNA. As such, it is predicted that the next generation Received: 12 November 2001 of high-throughput genotyping platforms will exploit large-scale multiplex reactions and