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Research

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K.C. Yuen, Brett Trost, Tara A. Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Daniele Merico, Jennifer Howe, Jeffrey R. MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W.L. Sung, Zhuozhi Wang, Rohan V. Patel, Giovanna Pellecchia, John Wei, Lisa J. Strug, Sherilyn Bell, Barbara Kellam, Melanie M. Mahtani, Anne S. Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D. Cohn, Dimitri J. Stavropoulos, Sarah Bowdin, Matthew R. Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter Ray, M. Stephen Meyn, Nasim Monfared, S. Mohsen Hosseini, Ann M. Joseph-George, Fred W. Keeley, Ryan A. Cook, Marc Fiume, Hin C. Lee, Christian R. Marshall, Jill Davies, Allison Hazell, Janet A. Buchanan, Michael J. Szego and Stephen W. Scherer
CMAJ February 05, 2018 190 (5) E126-E136; DOI: https://doi.org/10.1503/cmaj.171151
Miriam S. Reuter
The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael’s Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph’s Health Centre, Toronto, Ont.
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Susan Walker
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Bhooma Thiruvahindrapuram
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Joe Whitney
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Iris Cohn
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Neal Sondheimer
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Ryan K.C. Yuen
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Brett Trost
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Tara A. Paton
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Sergio L. Pereira
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Jo-Anne Herbrick
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Richard F. Wintle
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Daniele Merico
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Jennifer Howe
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Jeffrey R. MacDonald
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Chao Lu
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Thomas Nalpathamkalam
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Wilson W.L. Sung
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Zhuozhi Wang
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Rohan V. Patel
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Giovanna Pellecchia
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John Wei
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Lisa J. Strug
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Sherilyn Bell
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Barbara Kellam
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Melanie M. Mahtani
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Anne S. Bassett
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Yvonne Bombard
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Rosanna Weksberg
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Cheryl Shuman
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Ronald D. Cohn
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Dimitri J. Stavropoulos
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Sarah Bowdin
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Matthew R. Hildebrandt
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Wei Wei
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Asli Romm
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Peter Pasceri
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James Ellis
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Peter Ray
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M. Stephen Meyn
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Nasim Monfared
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S. Mohsen Hosseini
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Ann M. Joseph-George
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Fred W. Keeley
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Ryan A. Cook
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Marc Fiume
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Hin C. Lee
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Christian R. Marshall
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Jill Davies
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Allison Hazell
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Janet A. Buchanan
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Michael J. Szego
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Stephen W. Scherer
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  • For correspondence: stephen.scherer@sickkids.ca
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Data supplements

  • Online appendices

    • Appendix 1: The Personal Genome Project Canada – findings from whole genome sequences of the inaugural 56 participants
    • Appendix 2: Table S1 Pathogenic SNVs, pathogenic CNVs-SVs and rare coding CNVs
    • Appendix 3: Table S2
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      • Initial findings of the Personal Genome Project Canada

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    The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
    Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K.C. Yuen, Brett Trost, Tara A. Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Daniele Merico, Jennifer Howe, Jeffrey R. MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W.L. Sung, Zhuozhi Wang, Rohan V. Patel, Giovanna Pellecchia, John Wei, Lisa J. Strug, Sherilyn Bell, Barbara Kellam, Melanie M. Mahtani, Anne S. Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D. Cohn, Dimitri J. Stavropoulos, Sarah Bowdin, Matthew R. Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter Ray, M. Stephen Meyn, Nasim Monfared, S. Mohsen Hosseini, Ann M. Joseph-George, Fred W. Keeley, Ryan A. Cook, Marc Fiume, Hin C. Lee, Christian R. Marshall, Jill Davies, Allison Hazell, Janet A. Buchanan, Michael J. Szego, Stephen W. Scherer
    CMAJ Feb 2018, 190 (5) E126-E136; DOI: 10.1503/cmaj.171151

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    The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
    Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K.C. Yuen, Brett Trost, Tara A. Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Daniele Merico, Jennifer Howe, Jeffrey R. MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W.L. Sung, Zhuozhi Wang, Rohan V. Patel, Giovanna Pellecchia, John Wei, Lisa J. Strug, Sherilyn Bell, Barbara Kellam, Melanie M. Mahtani, Anne S. Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D. Cohn, Dimitri J. Stavropoulos, Sarah Bowdin, Matthew R. Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter Ray, M. Stephen Meyn, Nasim Monfared, S. Mohsen Hosseini, Ann M. Joseph-George, Fred W. Keeley, Ryan A. Cook, Marc Fiume, Hin C. Lee, Christian R. Marshall, Jill Davies, Allison Hazell, Janet A. Buchanan, Michael J. Szego, Stephen W. Scherer
    CMAJ Feb 2018, 190 (5) E126-E136; DOI: 10.1503/cmaj.171151
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