Next-generation of genomic variants database launches

Toronto, ON – Version 2 of the Database of Genomic Variants (DGV) launched last 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 Dr 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.