Illumina Announces Roadmap to Five Million Variants for Next-Generation Whole-Genome Genotyping

HONOLULU — At the 59th annual meeting of the American Society of Human Genetics, Illumina, Inc. (NASDAQ:ILMN) today announced its 2010 roadmap for the Infinium whole-genome genotyping platform, offering products capable of analyzing up to five million (5M) variants per sample. As part of this announcement, Illumina outlined an ongoing collaboration with leading researchers to select the highest-value markers from the 1000 Genomes Project for the next wave of genome-wide association studies (GWAS). This array content will facilitate testing new scientific hypotheses, including the impact of rare variants, CNVs, and other non-SNP markers on diseases and traits.

“We are at a critical point in human genetics. Next-generation sequencing in the 1000 Genomes Project and medical sequencing studies will soon create a near-complete catalogue of human DNA variants that exist at any appreciable frequency in human populations,” said David Altshuler, Ph.D., M.D., director of the program in Medical and Population Genetics at the Broad Institute. “To better understand whether and how these variants may contribute to human diseases, our collaborative group is working with Illumina to select new content for arrays that will enable ‘next-generation’ GWAS using many millions of variants in thousands of samples.”

Prior to releasing the 5M product, Illumina will release an intermediate 2.5M product that adds rare variants to the strong backbone of content currently on the HumanOmni1-Quad BeadChip. “The Infinium platform allows rapid evolution of GWAS products,” said Jay Flatley, president and CEO of Illumina. “Our genotyping product portfolio is regularly updated with the latest content to provide our customers with the most powerful analysis possible across populations and variant classes, all in one assay.”

Researchers who begin studies now using Illumina’s whole-genome genotyping products will have exclusive access to supplemental arrays that build from the Omni content to the full 5M variants. Customers on this preferred path will have the ability to incrementally interrogate novel sets of SNPs as they are released into public databases, prior to the release of the full 5M variant array. As with Illumina’s previous whole-genome genotyping arrays, the new products will offer the high performance necessary for robust CNV detection, together with greater density of coverage enabling association of rare variants with diseases or traits.

For more information about Illumina’s whole-genome genotyping products, please visit https://www.illumina.com/dna.

About Illumina

Illumina (www.illumina.com) is the leading developer, manufacturer, and marketer of next-generation life-science tools and integrated systems for the analysis of genetic variation and biological function. Using our proprietary technologies, we provide a comprehensive line of products and services that currently serve the sequencing, genotyping, and gene expression markets, and we expect to enter the market for molecular diagnostics. Our customers include leading genomic research centers, pharmaceutical companies, academic institutions, clinical research organizations, and biotechnology companies. Our tools provide researchers around the world with the performance, throughput, cost effectiveness, and flexibility necessary to perform the billions of genetic tests needed to extract valuable medical information from advances in genomics and proteomics. We believe this information will enable researchers to correlate genetic variation and biological function, which will enhance drug discovery and clinical research, allow diseases to be detected earlier, and permit better choices of drugs for individual patients.

“Safe Harbor” Statement under the Private Securities Litigation Reform Act of 1995: this release may contain forward-looking statements that involve risks and uncertainties. Among the important factors that could cause actual results to differ materially from those in any forward-looking statements are Illumina’s ability (i) to develop and commercialize further our BeadArray™, VeraCode®, and Solexa® technologies and to deploy new sequencing, gene expression, and genotyping products and applications for our technology platforms, (ii) to manufacture robust instrumentation and reagents technology, together with other factors detailed in our filings with the Securities and Exchange Commission including our recent filings on Forms 10-K and 10-Q or in information disclosed in public conference calls, the date and time of which are released beforehand. We disclaim any intent or obligation to update these forward-looking statements beyond the date of this release.

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