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Variant classification changes over time in the clinical molecular diagnostic laboratory setting.

Autor: Hahn E; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Mighton C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Genomics Health Services Research Program, St Michael's Hospital Li Ka Shing Knowledge Institute, Unity Health Toronto, Toronto, Ontario, Canada.; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada., Fisher Y; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada., Wong A; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada., Di Gioacchino V; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Watkins N; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Mayers J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada., Bombard Y; Genomics Health Services Research Program, St Michael's Hospital Li Ka Shing Knowledge Institute, Unity Health Toronto, Toronto, Ontario, Canada.; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada., Charames GS; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada., Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada jordan.lerner-ellis@sinaihealth.ca.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 788-793. Date of Electronic Publication: 2024 Jul 19.

Comprehensive genomic profiling for oncological advancements by precision medicine.

Autor: Pankiw M; Department of Medicine, Mount Sinai Hospital, Toronto, ON, Canada.; Department of Pathology and Lab Medicine, Mount Sinai Hospital, Toronto, ON, Canada., Brezden-Masley C; Department of Medicine, Mount Sinai Hospital, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.; Department of Medicine, University of Toronto, Toronto, ON, Canada., Charames GS; Department of Pathology and Lab Medicine, Mount Sinai Hospital, Toronto, ON, Canada. George.Charames@sinaihealth.ca.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada. George.Charames@sinaihealth.ca.; Department of Lab Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. George.Charames@sinaihealth.ca.; Mount Sinai Services, Toronto, ON, Canada. George.Charames@sinaihealth.ca.

Publikováno v: Medical oncology (Northwood, London, England) [Med Oncol] 2023 Nov 22; Vol. 41 (1), pp. 1. Date of Electronic Publication: 2023 Nov 22.

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Autor: Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Smith AC; CHEO Research Institute, Ottawa, Ontario, Canada., Mayers J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Tomaszewski R; Alberta Precision Laboratories, Edmonton, Alberta, Canada., Taylor S; Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Hume S; Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Agatep R; Shared Health, Winnipeg, Manitoba, Canada.; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Spriggs E; Shared Health, Winnipeg, Manitoba, Canada.; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Feilotter HE; Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Semenuk L; Kingston Health Sciences Centre, Kingston, Ontario, Canada., Wong H; Kingston Health Sciences Centre, Kingston, Ontario, Canada., Lazo de la Vega L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Marshall CR; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Axford MM; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Silver T; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada., Charames GS; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Di Gioacchino V; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Watkins N; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Foulkes WD; Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Clavier M; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Hamel N; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Chong G; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Lamont RE; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada., Parboosingh J; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada., Karsan A; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Bosdet I; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada., Young SS; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada., Tucker T; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada., Akbari MR; Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Speevak MD; Trillium Health Partners, Mississauga, Ontario, Canada., Vaags AK; Trillium Health Partners, Mississauga, Ontario, Canada., Lebo MS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada jordan.lerner-ellis@sinaihealth.ca.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 571-578. Date of Electronic Publication: 2021 Apr 19.