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October 19, 2011

Next-generation Database of Genomic Variants launches

Version 2 of the Database of Genomic Variants (DGV) launches this week. DGV – also known as “the Toronto Database” – is a public resource that facilitates the translation of genomic information into new diagnostic, prognostic and therapeutic tools for improving health. DGV was initially created in 2004, as an initiative of The Centre for Applied Genomics (TCAG) at The Hospital for Sick Children (SickKids) and the University of Toronto’s McLaughlin Centre.

DGV is the most comprehensive international repository that houses human genomic copy number and structural variants. DGV provides significant support for thousands of clinical diagnostic centres around the world. The new and improved database will expand functions of DGV. The new database is found at http://dgvbeta.tcag.ca/dgv/app/home.

"DGV continues to grow in popularity and impact. We polled our users to guide DGV’s expanded scope, while maintaining the simplicity of the original database,” says Dr. Stephen Scherer, Director of TCAG at SickKids and Director of the McLaughlin Centre at the University of Toronto.

Sequencing of the human genome has resulted in discoveries about the differences in the DNA of individuals and their relationship to the uniqueness of the human species. Only a few years ago, an international team of scientists that included Scherer's lab discovered that certain genes can be present in aberrant copy numbers, with others being structurally altered, in some individuals but not in others. These copy number variations (CNVs) and structural alterations have been shown to influence susceptibility to disease and response to treatments.

The new DGV will expand its content to include genomic variants from genome sequencing experiments through a unique partnership with the European Bioinformatics Institute (EBI) and National Center for Biotechnology Information (NCBI). DGV has also implemented new interactive query tools and interfaces for viewing complex data originating from genome scanning experiments.

"Rapid advances in DNA sequencing technologies to identify genetic variations in important genes are impacting all clinical disciplines. DGV is already widely used by clinical and laboratory geneticists to distinguish benign from pathogenic structural variation. We are poised at the brink of an era of genomic medicine and the new DGV will enable access to all of this important data supporting thousands of clinical diagnoses around the world," says Dr. Bridget Fernandez, clinical geneticist and President of the Canadian College of Medical Geneticists.

DGV is supported by the McLaughlin Centre, Genome Canada, the Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR) and SickKids Foundation. Scherer is a Fellow of the Canadian Institute for Advanced Research (CIFAR) and holds the GlaxoSmithKline/CIHR Pathfinder Chair in Genome Sciences at SickKids and the University of Toronto.

About The Hospital for Sick Children
The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally.  Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system. SickKids is proud of its vision for Healthier Children. A Better World. For more information, please visit www.sickkids.ca.

About SickKids Research & Learning Tower
SickKids Research & Learning Tower will bring together researchers from different scientific disciplines and a variety of clinical perspectives, to accelerate discoveries, new knowledge and their application to child health — a different concept from traditional research building designs.  The Tower will physically connect SickKids science, discovery and learning activities to its clinical operations.  Designed by award-winning architects Diamond + Schmitt Inc. and HDR Inc. with a goal to achieve LEED® Gold Certification for sustainable design, the Tower will create an architectural landmark as the eastern gateway to Toronto’s Discovery District.  SickKids Research & Learning Tower is funded by a grant from the Canada Foundation for Innovation and community support for the ongoing fundraising campaign. For more information, please visit www.buildsickkids.com.        

About the University of Toronto
Established in 1827, the University of Toronto has assembled one of the strongest research and teaching faculties in North America, presenting top students at all levels with an intellectual environment unmatched in breadth and depth on any other Canadian campus. U of T faculty co-author more research articles than their colleagues at any university in the US or Canada other than Harvard. As a measure of impact, U of T consistently ranks alongside the top five U.S. universities whose discoveries are most often cited by other researchers around the world.  The U of T faculty are also widely recognized for their teaching strengths and commitment to graduate supervision. www.utoronto.ca         

For more information, please contact:

Matet Nebres
The Hospital for Sick Children
Phone: 416-813-6380
email: matet.nebres@sickkids.ca

Suzanne Gold
The Hospital for Sick Children
Phone: 416-813-7654 ext. 2059
email: suzanne.gold@sickkids.ca