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Open Access

Genome sequencing as a diagnostic test

Gregory Costain, Ronald D. Cohn, Stephen W. Scherer and Christian R. Marshall
CMAJ October 25, 2021 193 (42) E1626-E1629; DOI: https://doi.org/10.1503/cmaj.210549
Gregory Costain
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Ronald D. Cohn
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Stephen W. Scherer
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Christian R. Marshall
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Article Information

vol. 193 no. 42 E1626-E1629
DOI 
https://doi.org/10.1503/cmaj.210549
PubMed 
34697096
History 
  • Published online October 24, 2021.
Copyright & Usage 
© 2021 CMA Joule 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. Gregory Costain, MD PhD,
  2. Ronald D. Cohn, MD,
  3. Stephen W. Scherer, PhD DSc,
  4. Christian R. Marshall, PhD
  1. Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
  1. Correspondence to: Gregory Costain, gregory.costain{at}sickkids.ca

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Genome sequencing as a diagnostic test
Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
CMAJ Oct 2021, 193 (42) E1626-E1629; DOI: 10.1503/cmaj.210549

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Genome sequencing as a diagnostic test
Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
CMAJ Oct 2021, 193 (42) E1626-E1629; DOI: 10.1503/cmaj.210549
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