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  • Roche Diagnostics Deutschland GmbH
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  • 68305 Mannheim
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  • Kary Staples
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Roche NimbleGen Microarray Technology Enables the Highest-Resolution Map of Human Genome Copy Number Variation

(PresseBox) (Madison, WI, USA, ) Roche NimbleGen's CGH microarray platform was used to generate the highest-resolution map of human genome copy number variation. Recent advances in microarray technology have led to the discovery of extensive copy number variation in the human genome, including DNA copy number gains (duplications), losses (deletions), and multiallelic or complex rearrangements. Copy number variants (CNVs) have been shown to contribute to inherited genetic disease and to confer resistance to infection, but the full extent of CNVs in the human population and the role of CNVs in common, complex diseases (e.g. diabetes, cardiovascular disease, psychiatric disorders) is not yet well understood.

The Genome Structural Variation Consortium, which includes researchers from the Wellcome Trust Sanger Institute (Hinxton, UK), Brigham and Women's Hospital & Harvard Medical School (Boston, MA, USA), and the Hospital for Sick Children (Toronto, Canada), used a set of twenty NimbleGen HD2 arrays, each array containing 2.1 million probes for a total of 42 million probes, to extend the current human genome CNV map down to 500 bp resolution, a ~100-fold improvement over the map released in 2006 (Redon et al. Nature 444:444, 2006). Data from this study, which included analysis of 20 females of European ancestry (CEU HapMap samples) and 20 females of African ancestry (YRI HapMap samples), has recently been made available as a public resource (http://www.sanger.ac.uk/...).

According to Gerd Maass, CEO of Roche NimbleGen, "We're honored that NimbleGen 2.1M arrays were used to generate the data for this essential public resource. Although the scientific research community has yet to fully understand the entire contribution of CNVs to common, complex diseases, we have seen that many genetic diseases within families often result from CNVs, and the presence of other CNVs may protect individuals with other diseases, including HIV and malaria. We believe that these data and other genomic information that help to map mutations will provide insight into how CNVs contribute to disease susceptibility and resistance in an individual, a group, or a population."

Roche NimbleGen is a leading innovator, manufacturer, and supplier of a proprietary suite of DNA microarrays, consumables, instruments, and services. Roche NimbleGen uniquely produces high-density arrays of long oligo probes that provide greater information content and higher data quality necessary for studying the full diversity of genomic and epigenomic variation. The improved performance is made possible by Roche NimbleGen's proprietary Maskless Array Synthesis (MAS) technology, which uses digital light processing and rapid, high-yield photochemistry to synthesize long oligo, high-density DNA microarrays with extreme flexibility. For more information about Roche NimbleGen, please visit the company's website at www.nimblegen.com.

Roche Diagnostics Deutschland GmbH

Headquartered in Basel, Switzerland, Roche is one of the world's leading research-focused healthcare groups in the fields of pharmaceuticals and diagnostics. As the world's biggest biotech company and an innovator of products and services for the early detection, prevention, diagnosis and treatment of diseases, the Group contributes on a broad range of fronts to improving people's health and quality of life. Roche is the world leader in in-vitro diagnostics and drugs for cancer and transplantation, and is a market leader in virology. It is also active in other major therapeutic areas such as autoimmune diseases, inflammatory and metabolic disorders and diseases of the central nervous system. In 2007 sales by the Pharmaceuticals Division totaled 36.8 billion Swiss francs, and the Diagnostics Division posted sales of 9.3 billion francs. Roche has R&D agreements and strategic alliances with numerous partners, including majority ownership interests in Genentech and Chugai, and invested over 8 billion Swiss francs in R&D in 2007. Worldwide, the Group employs about 80,000 people. Additional information is available on the Internet at www.roche.com.