Article
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
Journal of medical genetics - 1 Jul 2015
Lerner-Ellis Jordan, Wang Marina, White Shana, Lebo Matthew S
Abstract excerpt
BACKGROUND: 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...
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