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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton, Chloe; Smith, Amanda C; Mayers, Justin; Tomaszewski, Robert; Taylor, Sherryl; Hume, Stacey; Agatep, Ron; Spriggs, Elizabeth; Feilotter, Harriet E; Semenuk, Laura; Wong, Henry; Lazo de la Vega, Lorena; Marshall, Christian R; Axford, Michelle M; Silver, Talia; Charames, George S; Di Gioacchino, Vanessa; Watkins, Nicholas; Foulkes, William D; Clavier, Marcos; Hamel, Nancy; Chong, George; Lamont, Ryan E; Parboosingh, Jillian; Karsan, Aly; Bosdet, Ian; Young, Sean S; Tucker, Tracy; Akbari, Mohammad Reza; Speevak, Marsha D; Vaags, Andrea K; Lebo, Matthew S; Lerner-Ellis, Jordan.
Affiliation
  • Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
  • Smith AC; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Mayers J; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Tomaszewski R; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Taylor S; CHEO Research Institute, Ottawa, Ontario, Canada.
  • Hume S; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Agatep R; Alberta Precision Laboratories, Edmonton, Alberta, Canada.
  • Spriggs E; Alberta Precision Laboratories, Edmonton, Alberta, Canada.
  • Feilotter HE; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
  • Semenuk L; Alberta Precision Laboratories, Edmonton, Alberta, Canada.
  • Wong H; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
  • Lazo de la Vega L; Shared Health, Winnipeg, Manitoba, Canada.
  • Marshall CR; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Axford MM; Shared Health, Winnipeg, Manitoba, Canada.
  • Silver T; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Charames GS; Kingston Health Sciences Centre, Kingston, Ontario, Canada.
  • Di Gioacchino V; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.
  • Watkins N; Kingston Health Sciences Centre, Kingston, Ontario, Canada.
  • Foulkes WD; Kingston Health Sciences Centre, Kingston, Ontario, Canada.
  • Clavier M; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.
  • Hamel N; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Chong G; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Lamont RE; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  • Parboosingh J; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Karsan A; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  • Bosdet I; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Young SS; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Tucker T; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Akbari MR; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  • Speevak MD; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Vaags AK; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Lebo MS; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Lerner-Ellis J; Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.
J Med Genet ; 59(6): 571-578, 2022 06.
Article de En | MEDLINE | ID: mdl-33875564

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Variation génétique / Laboratoires Type d'étude: Prognostic_studies Limites: Humans Pays/Région comme sujet: America do norte Langue: En Journal: J Med Genet Année: 2022 Type de document: Article Pays d'affiliation: Canada Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Variation génétique / Laboratoires Type d'étude: Prognostic_studies Limites: Humans Pays/Région comme sujet: America do norte Langue: En Journal: J Med Genet Année: 2022 Type de document: Article Pays d'affiliation: Canada Pays de publication: Royaume-Uni