Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

Haemophilia. 2023 May;29(3):921-924. doi: 10.1111/hae.14771. Epub 2023 Mar 10.

Somayyeh Fahiminiya^{1

2}, Spyros Oikonomopoulos³, Georges-Etienne Rivard^{1

4}, Mira Gandhi⁵, Patrick Scott¹, Alexandre Montpetit⁶, Shu-Huang Chen³, KyungHee Park⁵, Catherine Vezina⁷, Jiannis Ragoussis^{3

8}, Claudia M B Carvalho⁵, Grant A Mitchell^{1

9}, Jean-Francois Soucy^{1

9}, Julie Gauthier^{1

9}

¹ Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
² Division of Hematology-Oncology, Department of Pathology, Dalhousie University; Queen Elizabeth II Health Sciences Centre, Nova Scotia Health, Halifax, Nova Scotia, Canada.
³ McGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
⁴ Division of Hematology-Oncology, Department of Pediatrics, Université de Montréal, CHU Sainte-Justine, Montréal, Québec, Canada.
⁵ Pacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
⁶ Centre d'expertise et de Services Génome Québec, Montréal, Québec, Canada.
⁷ Montreal Children's Hospital, McGill University Health Center, Montréal, Québec, Canada.
⁸ Department of Bioengineering, McGill University, Montréal, Québec, Canada.
⁹ Division of Medical Genetics, Department of Pediatrics, Université de Montréal, CHU Sainte-Justine, Montréal, Québec, Canada.

No abstract available

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