<p>This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</p> <p>Whole genome approaches using single nucleotide polymorphism (SNP) markers have the
potential to transform complex disease genetics and expedite pharmacogenetics research.
This has led to a requirement for high-throughput SNP genotyping platforms.
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 &gt;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
of high-throughput genotyping platforms will exploit large-scale multiplex reactions and
solid phase assay detection systems.</p>
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Comp Funct Genomics. 2002 Feb; 3(1):57-66