ABI Poised to Break the SNP Genotyping Speed Barrier?

Courtesy of Applied Biosystems Single nucleotide polymorphisms--variations at specific nucleotide positions in the genome sequences of two individuals--are perhaps the most common form of genetic diversity; it is estimated that 3-10 million SNPs are present in the human genome. Researchers use these markers to map disease genes, and in the burgeoning field of pharmacogenomics (personalized medicine). Such research necessarily requires the ability to genotype on a grand scale, but until recent

Deborah Stull
Mar 23, 2003
Courtesy of Applied Biosystems

Single nucleotide polymorphisms--variations at specific nucleotide positions in the genome sequences of two individuals--are perhaps the most common form of genetic diversity; it is estimated that 3-10 million SNPs are present in the human genome. Researchers use these markers to map disease genes, and in the burgeoning field of pharmacogenomics (personalized medicine). Such research necessarily requires the ability to genotype on a grand scale, but until recently, technology and cost prevented work at this level. A new product from Applied Biosystems (ABI) of Foster City, Calif., currently in beta-testing, could make such research a reality.

The SNPlex™ system is a reagent and software product for inexpensive, ultrahigh-throughput genotyping using the ABI 3730 and 3730xl capillary electrophoresis-based DNA analyzers. As the name implies, the system couples SNP genotyping and multiplexing, or the ability to genotype several target sequences in a single biological sample. According to Jay Kaufman,...

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