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MADISON, Wis., July 5, 2007 — NimbleGen Systems Inc. today announced that the Genome Structural Variation Consortium's Copy Number Variation (CNV) Project has selected NimbleGen human CGH microarrays as their platform to conduct Phase 2 of their studies. The project aims to extend the current human genome CNV map down to a 500bp resolution, which would be a ~100-fold improvement over the existing map released last year (Redon et al. Nature 444:444, 2006). The consortium is an international collaboration of researchers from the Wellcome Trust Sanger Institute (Hinxton, UK) (http://www.sanger.ac.uk/humgen/cnv/), Brigham and Women's Hospital & Harvard Medical School (Boston, MA, USA) (http://www.chromosome.bwh.harvard.edu), and the Hospital for Sick Children (Toronto, Canada).
Phase 1 of the CNV project was completed using large insert clone arrays and a commercial genotyping microarray platform, which identified human CNVs in the HapMap populations (http://www.hapmap.org/) in a genome-wide manner, down to ~50 Kb resolution. The consortium leaders have now selected NimbleGen's latest generation microarray platform, consisting of 2.1 million long oligonucleotide probes per array, because it enables them to survey the whole human genome at an average probe spacing of 50bp with only 20 arrays (total of 42 million probes). This results in a more cost-effective approach.
Nigel Carter, Ph.D., one of the consortium leaders and an investigator at the Wellcome Trust Sanger Institute, commented, "The first phase of the CNV project gave us a remarkable view of a previously poorly appreciated force for human variation. The new phase will allow us to refine that, looking at smaller and, most probably, more common variants." Matthew Hurles, Ph.D., another consortium leader and investigator at the Sanger Institute, noted, "Already the first-phase map has allowed researchers to produce new findings on the role of copy-number variation in diseases. CNV will be incorporated into many new disease studies to identify variants that are invisible to other detection systems. The next phase that we announced July 5th, will increase the power of our molecular microscope, allowing us see deeper into the variation in our genome and help to unravel the role of CNV in disease."
CNVs are regions of DNA that are duplicated or deleted in an individual's genome and are defined as varying in size from 1,000 to 5 million bases in length. The genome-wide presence of CNVs in "normal" (i.e., healthy) populations was initially reported by two groups in 2004. These groups included a collaborative between the laboratories of Charles Lee, Ph.D. at Brigham and Women's Hospital, Harvard Medical School and Stephen Scherer, Ph.D. at The Centre for Applied Genomics (TCAG) at The Hospital for Sick Children in Toronto (Iafrate et al. Nature Genetics 36:949), and a separate group working under the direction of Michael Wigler, Ph.D. at Cold Spring Harbor Laboratory (Sebat et al. Science 305:525). It is not known to what extent CNVs play a role in common, complex diseases, such as heart disease or diabetes, although it is thought to be significant.
"CNVs are having a wide impact on genomic research and in clinical genetic diagnostics," said Charles Lee, Ph.D., one of the consortium leaders and Director of Cytogenetics for the Harvard Cancer Center. "Among healthy individuals, we anticipate that CNVs will play a substantial role in a person's susceptibility to many common human diseases."
The results from these studies are expected to result in the development of a very comprehensive CNV database as a public resource (http://projects.tcag.ca/variation/). Just as large-scale SNP discovery studies have led to the development of a large catalog of SNPs that can be used for disease association studies, it is expected that similar large-scale CNV association studies will be initiated once this new CNV database is publicly available. Moreover, this resource is expected to enable integration of CNV data with other genomic data, and facilitate use of multiple types of genomic information in the clinical setting for more precise diagnoses as well as the development of novel diagnostics and therapeutics.
About NimbleGen Systems, Inc. NimbleGen Systems, the leading supplier of flexible high-density microarray products and services, is enabling a new era of High-Definition Genomics. NimbleGen uniquely produces high-density arrays of isothermal long oligos that provide superior results for advanced genomic analysis methods such as CGH, ChIP, microbial Comparative Genome Sequencing, and expression tiling. NimbleGen's High-Definition Genomics enables scientists to obtain and integrate complex genomic data sets not previously accessible, providing a much clearer understanding of genome structure and function, and how this relates to biology and medicine. This improved performance is made possible by NimbleGen's Maskless Array Synthesis (MAS) technology, which uses digital light processing and rapid, high-yield photochemistry to synthesize high-density DNA microarrays. For more information about NimbleGen, please visit the company's website at http://www.nimblegen.com
About TCAG The Centre for Applied Genomics (TCAG) is located in the Research Institute of The Hospital for Sick Children, Toronto, and is a Science and Technology Platform of Genome Canada. TCAG provides genomics infrastructure to facilitate a wide variety of research, including human genomics and disease, model organisms, and agricultural and food sciences. The Centre's services are available to all clients in the academic, government or private sectors. TCAG supports a number of large-scale Genome Canada projects, other national and international genomics efforts, as well as hundreds of additional researchers in Ontario, Canada and worldwide. Further information is available from the Centre's website at http://www.tcag.ca
About the Wellcome Trust Sanger Institute The Wellcome Trust Sanger Institute, which receives the majority of its funding from the Wellcome Trust, was founded in 1992 as the focus for UK sequencing efforts. The Institute is responsible for the completion of the sequence of approximately one-third of the human genome as well as genomes of model organisms such as mouse and zebrafish, and more than 90 pathogen genomes. In October 2005, new funding was awarded by the Wellcome Trust to enable the Institute to build on its world-class scientific achievements and exploit the wealth of genome data now available to answer important questions about health and disease. These programmes are built around a Faculty of more than 30 senior researchers. The Wellcome Trust Sanger Institute is based in Hinxton, Cambridge, UK.
About Brigham and Women's Hospital Brigham and Women's Hospital is a 747-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare System, an integrated health care delivery network. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical pre-eminence dates back to 1832 and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives, dedication to educating and training health care professionals, and strength in biomedical research. With $370M in funding and more than 500 research scientists, BWH is an acclaimed leader in clinical, basic and epidemiological investigation - including the landmark Nurses Health Study, Physicians Health Studies, and the Women's Health Initiative. http://www.brighamandwomens.org
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