Illumina ups genotyping data quality with BeadChip
the highest data quality of any genotyping array currently
available, with call rates that routinely exceed 99 per cent,
reproducibility and accuracy approaching 100 per cent.
Most of the genetic differences between individuals can be attributed to single nucleotide polymorphisms, or SNPs. Although most occur in noncoding regions of the genome, SNPs within genes can produce devastating effects.
Many different diseases-from heart disease to cystic fibrosis-have been attributed to specific SNPs, and the list continues to grow.
The new Sentrix HumanHap BeadChips are part of Illumina's growing genotyping portfolio that includes whole-genome arrays, focused-content arrays and SNP panels, and powerful assay protocols such as the GoldenGate and Infinium assays.
The first product, the HumanHap550 BeadChip, contains over 550,000 SNP (single nucleotide polymorphism) markers on a single microarray and provides the most comprehensive genomic coverage of any product currently available.
A second product, the HumanHap240S BeadChip, when used in combination with Illumina's existing HumanHap300 BeadChip, enables customers to expand the genomic coverage to the same level provided by the HumanHap550 single-chip solution.
"The development of the HumanHap550 leveraged the infrastructure that we built as part of our 100K and 300K programs allowing us to quickly bring to market a BeadChip with the industry's highest genomic coverage for whole-genome genotyping," said Jay Flatley, >Illumina President and CEO.
"We believe that the launch of the HumanHap550 will further fuel the explosive growth of this market," Flatley added.
HumanHap BeadChips are powered by the Company's Infinium assay method, which enables Illumina to select SNPs that have the highest per-marker information value, resulting in comprehensive genomic coverage with fewer SNP markers than competing approaches.
Each of the new HumanHap550 BeadChips will contain roughly 555,000 markers derived principally from so-called "tagSNPs" identified and validated in both phases of the International HapMap Project, which was completed in October 2005.
TagSNPs deliver high information value to geneticists because they serve as "proxies" for larger groups of SNPs, called haplotypes, which are inherited together.
Researchers can analyse human populations comprehensively and efficiently by examining between 250,000 and 500,000 tagSNPs instead of the entire set of roughly 10 million SNPs - opening doors to genome-wide disease association studies now in progress.
Sentrix HumanHap BeadChips are the only whole-genome genotyping arrays with tagSNP-centric content.
The HumanHap240S is available for immediate shipment and the HumanHap550 will be available in the next four weeks.
