Toronto database for genomic medicine extends global reach

Toronto, ON – This week marks the launch of the Database of Genomic Variants archive (DGVa) – a public resource that will facilitate the translation of genetic information into new diagnostic, prognostic and therapeutic tools for improved human health. DGVa was created by the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) in collaboration with the University of Toronto’s McLaughlin Centre and The Centre for Applied Genomics at the Hospital for Sick Children (SickKids). The new database is announced in the latest online edition of Nature Genetics.

The new DGVa initiative will expand operations of the Database of Genomic Variants (DGV) – known as “the Toronto Database” – the world’s premier database housing copy number and structural variation data in the human genome, providing significant support for investigations in human biology, considered by Science magazine as a breakthrough story of 2007.

Professor Stephen Scherer, director of the McLaughlin Centre at U of T and the Centre for Applied Genomics at SickKids, said that “DGV, which supports the interpretations of tens of thousands of clinical diagnoses each year, will expand its scope and impact through this initiative.

“We’re delighted to be working with Dr Paul Flicek’s EMBL-EBI team to establish DGVa with the aim of capturing the onslaught of copy number and structural variation data coming from thousands of genome sequencing projects around the world,” said Dr Scherer, a DGV founder. “DGVa will also exchange data with dbVAR, a companion database at the National Center for Biotechnology Information in the USA”

Sequencing of the human genome resulted in discoveries about the differences in our genes and their relationship to the uniqueness of the human species. Only a few years ago, scientists including Dr Scherer’s team also discovered that certain genes are present in multiple copies, with others being structurally altered, in some individuals but not in others. These structural variations have been shown to influence susceptibility to disease and response to treatments.

“Rapid advances in DNA sequencing technologies to identify genetic variations in important genes are impacting all clinical disciplines. We are poised at the brink of an era of genomic medicine and our new international initiative will guarantee equal access to all of this important data around the world,” said Dr Lars Feuk, co-founder and co-director of DGV, who is now at the Rudbeck Laboratory at Uppsala University in Sweden.