Deciphering a novel complex inversion affecting <i>F8</i> in a family with severe haemophilia A by optical genome mapping-Reference-Cited by-同舟云学术

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

Published:2023-03-10 Issue:3 Volume:29 Page:921-924
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Fahiminiya Somayyeh¹²^ORCID,Oikonomopoulos Spyros³,Rivard Georges‐Etienne¹⁴^ORCID,Gandhi Mira⁵,Scott Patrick¹,Montpetit Alexandre⁶,Chen Shu‐Huang³,Park KyungHee⁵,Vezina Catherine⁷,Ragoussis Jiannis³⁸,Carvalho Claudia M. B.⁵,Mitchell Grant A.¹⁹,Soucy Jean‐Francois¹⁹,Gauthier Julie¹⁹

Affiliation:

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

Funder

Canada Foundation for Innovation

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14771

Reference10 articles.

1. Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia

2. A full molecular picture of F8 intron 1 inversion created with optical genome mapping

3. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

4. Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene

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