Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
MetadataShow full item record
CitationLerner-Ellis, Jordan, Marina Wang, Shana White, and Matthew S Lebo. 2015. “Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.” Journal of Medical Genetics 52 (7): 438-445. doi:10.1136/jmedgenet-2014-102933. http://dx.doi.org/10.1136/jmedgenet-2014-102933.
AbstractBackground: The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical laboratories adopt modern genomics technologies, the need for this type of collaborative framework is increasingly important. Methods: A survey to assess existing protocols for variant classification and reporting was delivered to clinical genetics laboratories across Canada. Based on feedback from this survey, a variant assessment tool was made available to all laboratories. Each participating laboratory was provided with an instance of GeneInsight, a software featuring versioning and approval processes for variant assessments and interpretations and allowing for variant data to be shared between instances. Guidelines were established for sharing data among clinical laboratories and in the final outreach phase, data will be made readily available to patient advocacy groups for general use. Results: The survey demonstrated the need for improved standardisation and data sharing across the country. A variant assessment template was made available to the community to aid with standardisation. Instances of the GeneInsight tool were provided to clinical diagnostic laboratories across Canada for the purpose of uploading, transferring, accessing and sharing variant data. Conclusions: As an ongoing endeavour and a permanent resource, the Canadian Open Genetics Repository aims to serve as a focal point for the collaboration of Canadian laboratories with other countries in the development of tools that take full advantage of laboratory data in diagnosing, managing and treating genetic diseases.
Citable link to this pagehttp://nrs.harvard.edu/urn-3:HUL.InstRepos:17820938
- HMS Scholarly Articles 
Showing items related by title, author, creator and subject.
AMD-Associated Genes Encoding Stress-Activated MAPK Pathway Constituents Are Identified by Interval-Based Enrichment Analysis SanGiovanni, John Paul; Lee, Phil H. (Public Library of Science, 2013)Purpose To determine whether common DNA sequence variants within groups of genes encoding elements of stress-activated mitogen-activated protein kinase (MAPK) signaling pathways are, in aggregate, associated with advanced ...
Rogers, Michael S.; Boyartchuk, Victor; Rohan, Richard M.; Birsner, Amy E.; Dietrich, William F.; D’Amato, Robert J. (Public Library of Science, 2012)Angiogenesis is the process by which new blood vessels are formed from existing vessels. Mammalian populations, including humans and mice, harbor genetic variations that alter angiogenesis. Angiogenesis-regulating gene ...
Rendleman, Justin; Antipin, Yevgeniy; Reva, Boris; Adaniel, Christina; Przybylo, Jennifer A.; Dutra-Clarke, Ana; Hansen, Nichole; Heguy, Adriana; Huberman, Kety; Borsu, Laetitia; Paltiel, Ora; Ben-Yehuda, Dina; Brown, Jennifer R.; Freedman, Arnold S.; Sander, Chris; Zelenetz, Andrew; Klein, Robert J.; Shao, Yongzhao; Lacher, Mortimer; Vijai, Joseph; Offit, Kenneth; Kirchhoff, Tomas (Public Library of Science, 2014)Molecular and genetic evidence suggests that DNA repair pathways may contribute to lymphoma susceptibility. Several studies have examined the association of DNA repair genes with lymphoma risk, but the findings from these ...