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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 PhD
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Christian 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.
PhD
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Meredith 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 MSc
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Anna 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 MSc
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Caitlin 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 MS
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Dimitri 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 PhD
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Viji 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.
MA
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Kate 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.
MSc
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Sarah 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 PhD
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E. 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.
PhD
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Lynette 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.
MSc
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Reem 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.
MA
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Whiwon 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 MS
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Lijia 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.
PhD
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Olga 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.
PhD
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Wendy 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 PhD
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Roberto 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 MSc
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Martin 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 PhD
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Kym 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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Article Information

vol. 10 no. 2 E460-E465
DOI 
https://doi.org/10.9778/cmajo.20210272
PubMed 
35609929
History 
  • Published online May 24, 2022.
Copyright & Usage 
© 2022 CMA Impact Inc. or its licensors This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY-NC-ND 4.0) licence, which permits use, distribution and reproduction in any medium, provided that the original publication is properly cited, the use is noncommercial (i.e., research or educational use), and no modifications or adaptations are made. See: https://creativecommons.org/licenses/by-nc-nd/4.0/

Author Information

  1. Robin Z. Hayeems, ScM PhD,
  2. Christian R. Marshall, PhD,
  3. Meredith K. Gillespie, HBSc MSc,
  4. Anna Szuto, HBSc MSc,
  5. Caitlin Chisholm, HBSc MS,
  6. Dimitri J. Stavropoulos, MSc PhD,
  7. Viji Venkataramanan, MA,
  8. Kate Tsiplova, MSc,
  9. Sarah Sawyer, MD PhD,
  10. E. Magda Price, PhD,
  11. Lynette Lau, MSc,
  12. Reem Khan, MA,
  13. Whiwon Lee, HBSc MS,
  14. Lijia Huang, PhD,
  15. Olga Jarinova, PhD,
  16. Wendy J. Ungar, MSc PhD,
  17. Roberto Mendoza-Londono, MD MSc,
  18. Martin J. Somerville, MSc PhD,
  19. Kym M. Boycott, MD PhD
  1. 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.
  1. Correspondence to: Robin Hayeems, robin.hayeems{at}sickkids.ca
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CMAJ Open: 10 (2)
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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

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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
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