The Opportunity in the Marketplace
Genetic differences play an important and often direct role in an individual’s susceptibility and response to inherited, acquired and infectious diseases. Following the recent discovery that Copy Number Variations (CNVs, marked by variable number of duplications of gene-sized segments of the genome), are more common in the human genome than originally thought, screening for variation has become an important aspect of genomic characterization of patient and control cohorts.
Since the discovery of the importance of CNVs, more and more variants are being reported, and the amount of data in this area is rapidly growing. The expanding resource of control and patient data sets highlights the need for an effective and searchable catalogue. In particular, clinical geneticists require tools that allow them to discriminate between normal and possibly pathogenic CNVs.
The Solution Provided by Genomics
The Database of Genomic Variants (DGV) is the unequivocal global resource for the comprehensive summary of the structural variation in the human genome. The DGV catalogs control data to help correlate genomic variation with phenotypic findings. The fundamental aim of the cataloguing efforts is to facilitate accurate interpretation of diagnostic comparative genomic hybridization (CGH) array results for clinical cytogeneticists and clinical geneticists who provide constitutional genetic (and in some cases prenatal) testing.
The Genomic Resource
The database allows clinicians or researchers to correlate their data with several (if not all) variants identified in control samples to date. The DGV only merges data sets of similar structural variants. When de novo CNVs are not found in the DGV they are cross-referenced to recurrent pathogenic CNVs found in specimens from affected individuals (eg, the Decipher database). A matched CNV to the comparative affected individual databases increases the probability that the given CNV is pathogenic in nature, especially if the CNV affects the same gene in different individuals with similar or overlapping phenotypes.
The DGV is hosted by The Centre for Applied Genomics (TCAG) in Toronto, Canada. The DGV is one of the most utilized public database for genomic medicine with over 12,000 visits per month on average from users worldwide. To date over 180 citations per year are attributed to the DGV. The DGV contains over 89,000 entries comprised of approximately 58,000 CNVs, over 850 inversions and over 30,000 small insertion or deletions.
The Scientist
Dr. Stephen Scherer led the monumental discovery of CNVs with his team at TCAG. Dr. Scherer is a Senior Scientist in the Department Genetics and Genomic Biology at the Hospital for Sick Children, a Professor in the Department of Molecular and Medical Genetics at the University of Toronto and the Director of both TCAG and the McLaughlin Centre. He is an Investigator of the Canadian Institutes of Health Research (CIHR), and sits on the Board of Trustees of Genome Canada and the Human Genome Organization. He has received numerous honors and awards that include the 2005 Distinguished Achievement Award in Health Sciences from Canada's Top 40 Under 40™ and the Steacie Prize for Natural Sciences in 2004. In 2006, Dr. Scherer was named a Fellow of the Royal Society of Canada. Dr. Scherer sits on the Scientific Advisory Boards of Combimatrix Molecular Diagnostics and Autism Speaks.
The Funding
These research endeavors are currently supported by Ontario’s Ministry of Research and Innovation, Genome Canada through the Ontario Genomics Institute and other funding partners in Canada and internationally.
Learn More
Learn more about the DGV here.
Learn more about the projects that contributed to developing this resource here and here and about resources associated with this and other large-scale genomics projects here.
Learn more about The Centre for Applied Genomics here.
Learn more about the Ontario Genomics Institute here.
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