title: Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
abstract: 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 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.
authors.affiliation: Laboratory Medicine and Pathobiology, University of Toronto & Mount Sinai Hospital, Toronto, Ontario, Canada Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
authors.forename: Jordan
authors.initials: J
authors.lastname: Lerner-Ellis
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: Marina
authors.identifier: http://orcid.org/0000-0002-6051-4308
authors.initials: M
authors.lastname: Wang
authors.affiliation: Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Shana
authors.initials: S
authors.lastname: White
authors.affiliation: Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Matthew S
authors.initials: MS
authors.lastname: Lebo
mesh_terms: D002170:Canada; D030541:Databases, Genetic; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics / Q000379:methods*; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D012984:Software; D011795:Surveys and Questionnaires
keywords: Clinical genetics; Diagnostics tests; Evidence Based Practice; Genetic screening/counselling; Genetics