P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains

• Edward Higginbotham,
• Lynette Lau,
• Bhooma Thiruvahindrapuram,
• Jeffrey MacDonald,
• Wilson Sung,
• Olivia Moran,
• Afia Hasnain,
• Dimitri Stavropoulos,
• Melanie Beaulieu Bergeron,
• Kym Boycott,
• Vanda McNiven,
• Kathy Chun

Affiliations

Edward Higginbotham

Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada

Lynette Lau

Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada

Bhooma Thiruvahindrapuram

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada

Jeffrey MacDonald

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada

Wilson Sung

Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada

Olivia Moran

Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada

Afia Hasnain

Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

Dimitri Stavropoulos

Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

Melanie Beaulieu Bergeron

Genetics Diagnostic Laboratory, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada, Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada

Kym Boycott

Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada, Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada

Vanda McNiven

Division of Genetics, Department of Pediatrics, McMaster Children’s Hospital, Hamilton, Ontario, Canada

Kathy Chun

Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada