MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine

Christian R Marshall; Dimitri J Stavropoulos; Rebekah Jobling; Daniele Merico; Sarah Bowdin; Nasim Monfared; MStephen Meyn; Michael Szego; Randi Zlotnik Shaul; Bhooma Thiruvahindrapuram; Giovanna Pellecchia; Thomas Nalpathamkalam; Michael Brudno; Marta Girdea; Robin Z Hayeems; Chris Carew; Raith Erickson; Richard A Leach; Cheryl Shuman; Peter N Ray; Ronald D Cohn; Stephen W Scherer

doi:10.1136/jmedgenet-2015-103578.31

Article info

Molecular Genetics

Posters MG-124 to MG-136

MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine

Authors

Christian R Marshall 1Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Dimitri J Stavropoulos 1Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Rebekah Jobling 2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Daniele Merico 3The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Sarah Bowdin 2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Nasim Monfared 4Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
MStephen Meyn 2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada 5Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada PubMed articles Google scholar articles
Michael Szego 6Joint Centre for Bioethics, University of Toronto, Toronto, ON, Canada PubMed articles Google scholar articles
Randi Zlotnik Shaul 7Department of Bioethics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Bhooma Thiruvahindrapuram 3The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Giovanna Pellecchia 3The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Thomas Nalpathamkalam 3The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Michael Brudno 5Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada 8Department of Computer Science, University of Toronto, Toronto, ON, Canada PubMed articles Google scholar articles
Marta Girdea 8Department of Computer Science, University of Toronto, Toronto, ON, Canada PubMed articles Google scholar articles
Robin Z Hayeems 9Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Chris Carew 4Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada PubMed articles Google scholar articles
Raith Erickson 10Complete Genomics Inc, Mountain View, CA, USA PubMed articles Google scholar articles
Richard A Leach 10Complete Genomics Inc, Mountain View, CA, USA PubMed articles Google scholar articles
Cheryl Shuman 2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada 5Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada 11Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada PubMed articles Google scholar articles
Peter N Ray 1Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada 5Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada 11Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada PubMed articles Google scholar articles
Ronald D Cohn 2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada 4Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada 5Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada PubMed articles Google scholar articles
Stephen W Scherer 3The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada 4Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada 5Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada 11Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada PubMed articles Google scholar articles

Citation

Marshall CR, Stavropoulos DJ, Jobling R, et al

MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine

Journal of Medical Genetics 2015;52:A12.

Publication history

First published December 4, 2015.

Online issue publication

April 27, 2016

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