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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
Robin Z. Hayeems, Christian R. Marshall, Meredith K. Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri J. Stavropoulos, Viji Venkataramanan, Kate Tsiplova, Sarah Sawyer, E. Magda Price, Lynette Lau, Reem Khan, Whiwon Lee, Lijia Huang, Olga Jarinova, Wendy J. Ungar, Roberto Mendoza-Londono, Martin J. Somerville and Kym M. Boycott
May 24, 2022 10 (2) E460-E465; DOI: https://doi.org/10.9778/cmajo.20210272
Robin Z. Hayeems
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
ScM PhDChristian R. Marshall
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
PhDMeredith K. Gillespie
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
HBSc MScAnna Szuto
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
HBSc MScCaitlin Chisholm
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
HBSc MSDimitri J. Stavropoulos
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MSc PhDViji Venkataramanan
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MAKate Tsiplova
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MScSarah Sawyer
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MD PhDE. Magda Price
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
PhDLynette Lau
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MScReem Khan
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MAWhiwon Lee
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
HBSc MSLijia Huang
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
PhDOlga Jarinova
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
PhDWendy J. Ungar
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MSc PhDRoberto Mendoza-Londono
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MD MScMartin J. Somerville
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MSc PhDKym M. Boycott
Program in Child Health Evaluative Sciences (Hayeems, Venkataramanan, Tsiplova, Lee, Ungar), Hospital for Sick Children Research Institute; Department of Paediatric Laboratory Medicine (Marshall, Stavropoulos, Lau, Somerville), Hospital for Sick Children, Toronto, Ont.; Department of Laboratory Medicine and Pathobiology, (Marshall, Stavropoulos, Somerville), University of Toronto, Toronto, Ont.; Children’s Hospital of Eastern Ontario Research Institute (Gillespie, Price, Boycott), University of Ottawa, Ottawa, Ont.; Division of Clinical and Metabolic Genetics (Szuto, Khan, Lee, Mendoza-Londono), Hospital for Sick Children, Toronto, Ont.; Department of Genetics (Chisholm, Sawyer, Huang, Jarinova, Boycott), Children’s Hospital of Eastern Ontario, Ottawa, Ont.
MD PhD
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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
Robin Z. Hayeems, Christian R. Marshall, Meredith K. Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri J. Stavropoulos, Viji Venkataramanan, Kate Tsiplova, Sarah Sawyer, E. Magda Price, Lynette Lau, Reem Khan, Whiwon Lee, Lijia Huang, Olga Jarinova, Wendy J. Ungar, Roberto Mendoza-Londono, Martin J. Somerville, Kym M. Boycott
Apr 2022, 10 (2) E460-E465; DOI: 10.9778/cmajo.20210272
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
Robin Z. Hayeems, Christian R. Marshall, Meredith K. Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri J. Stavropoulos, Viji Venkataramanan, Kate Tsiplova, Sarah Sawyer, E. Magda Price, Lynette Lau, Reem Khan, Whiwon Lee, Lijia Huang, Olga Jarinova, Wendy J. Ungar, Roberto Mendoza-Londono, Martin J. Somerville, Kym M. Boycott
Apr 2022, 10 (2) E460-E465; DOI: 10.9778/cmajo.20210272
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