Roche NimbleGen chip draws the highest resolution human genome copy number variation map

Roche NimbleGen's CGH chip platform is used to generate the highest resolution human genome copy number variation map. Recent advances in chip technology have led to large-scale exploration of human genome copy number variations, including increased DNA copy number (repetition), loss (deletion), and multiple alleles or complex rearrangements. Studies have shown that copy number variation (CNV) causes genetic disease or resistance to infectious diseases, but a full range of copy number variation (CNV) in the population, as well as copy number variation (CNV) in common complex diseases (such as diabetes) The role of cardiovascular disease and mental disorders has not yet been clarified.

The Genome Structural Variance Alliance, which includes researchers from the Wellcome Trust Sanger Institute (Hinxton, UK), Harvard Medical School affiliated Brigham and Women's Hospital (Boston, USA) and SickKids Hospital (Toronto, Canada), is using a set of 20 A NimbleGen HD2 chip is used to extend the current Human Genome Copy Number Variation (CNV) map. Each NimbleGen HD2 chip contains 2.1 million probes for a total of 42 million probes. The study further refined the resolution of the copy number variation (CNV) map to 500 bp, which is about 100 times higher than the map published in 2006 (Redon et al. Nature 444: 444, 2006). The data from this study included analysis of 20 women of European descent (CEU HapMap sample) and 20 women of African descent (YRI HapMap sample), which are currently open to the public.
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Rod NimbleGen CEO, Gerd Maass commented, “We are honored to use the NimbleGen 2.1M chip to generate data from this important public resource. Although the scientific community has not fully understood the full effect of copy number variation (CNV) on common complex diseases. However, we already know that genetic diseases in many families are often caused by copy number variation (CNV), while the presence of other copy number variants (CNV) protects individuals from diseases such as HIV and malaria. We believe these and other genomic information It will help locate mutations and give people insight into how copy number variation (CNV) contributes to disease susceptibility and resistance in individuals, groups or populations."

Roche NimbleGen is a leading creator, manufacturer and supplier of patented DNA microarrays, consumables, instruments and services. Roche NimbleGen produces high-density microarrays of long oligonucleotide probes that provide more information and higher quality data for genomic and epigenome variation studies. This performance improvement is achieved by Roche NimbleGen's patented Membrane-Free Chip Synthesis (MAS) technology, which uses digital light processing and fast, high-yield photochemical technology to synthesize long oligonucleotides with high flexibility. DNA microarray. About Roche
For more information on NimbleGen, please visit the company's website at

About Roche
Founded in 1896 and headquartered in Basel, Switzerland, Roche is one of the world's leading R&D-based health companies in the pharmaceutical and diagnostic industries. As the world's largest biotechnology company, Roche offers innovative products and services from early detection, prevention, diagnosis to treatment, and has made outstanding contributions in many areas, thereby improving human health and quality of life. Roche is a global leader in in vitro diagnostics, antineoplastics and transplants and a market leader in virology. It is also active in other key disease areas such as autoimmune diseases, inflammation, metabolism and central nervous system diseases. In 2008, the Pharmaceuticals Division had sales of CHF 36 billion and the Diagnostics Division had sales of CHF 9.7 billion. In 2008, Roche invested more than 9 billion Swiss francs in research and development, and established research and development business alliances with a number of partners, including Roche's Genentech and Sino-foreign Pharmaceuticals. The Roche Group has a total of approximately 80,000 employees.

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