ABSTRACT The availability of the completed human genome and potentially over 1,000,000 SNP's by the end of 2000 has fueled the demand for rapid, low-cost and flexible methods for single nucleotide polymorphism (SNP) genotyping. There is an emerging opportunity to understand how drug response, adverse drug effects, and genetic predisposition to disease of individual patients can be correlated to specific SNPs on a genome-wide scale. Finding these correlations requires that an ever increasing number of SNP's be analyzed against a very large number of patient samples, and has driven a requirement toward vast genotyping capacity, at least million SNP-samples per day, in order to make these key pharmacogenetic correlations. Orchid has been a leader in high throughput genotyping with its SNPstreamÔ 25K, a robotic platform performing Orchid’s SNP-ITÔ primer extension biochemistry. The next generation technology internally referred to as the “SNPstream 100K" is capable of routine 100K SNP/day operation with the ability to perform at higher throughputs. To achieve the ultra-high throughputs of the SNPstream 100K, the core primer extension genotyping biochemistry, SNP-ITÔ, has been adapted to a novel fluidics device which draws from the inherent scalability and compatibility with automation of the standard microtiter plate format. Direct fluorescence read-out in a novel array-reading detection system, and PCR and genotyping multiplexing in an array-based platform maintain the processing flexibility features of the SNPstreamÔ system while enabling significant per analysis reagent reduction. . Results from performance of the SNPstream 100K method for a range of different SNP's will be provided.
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