Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Author:

Downes Kate1234ORCID,Megy Karyn12ORCID,Duarte Daniel12,Vries Minka5,Gebhart Johanna6ORCID,Hofer Stefanie6,Shamardina Olga12,Deevi Sri V. V.12ORCID,Stephens Jonathan12,Mapeta Rutendo12,Tuna Salih12ORCID,Al Hasso Namir4,Besser Martin W.7ORCID,Cooper Nichola8,Daugherty Louise12,Gleadall Nick13ORCID,Greene Daniel139,Haimel Matthias1011ORCID,Martin Howard4,Papadia Sofia12ORCID,Revel-Vilk Shoshana12,Sivapalaratnam Suthesh1313,Symington Emily7,Thomas Will7,Thys Chantal14,Tolios Alexander15,Penkett Christopher J.12ORCID,Ouwehand Willem H.12316ORCID,Abbs Stephen4,Laffan Michael A.8ORCID,Turro Ernest1239ORCID,Simeoni Ilenia12,Mumford Andrew D.17,Henskens Yvonne M. C.18,Pabinger Ingrid6,Gomez Keith1920ORCID,Freson Kathleen14ORCID,

Affiliation:

1. Department of Haematology, University of Cambridge,

2. National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals,

3. National Health Service (NHS) Blood and Transplant, and

4. East Midlands and East of England Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;

5. Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;

6. Clinical Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria;

7. Department of Haematology, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;

8. Centre for Haematology, Imperial College London, London, United Kingdom;

9. MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom;

10. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria;

11. CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria;

12. Pediatric Hematology/Oncology Unit, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel;

13. Blizard Institute, Queen Mary University London, London, United Kingdom;

14. Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium;

15. Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria;

16. Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom;

17. School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;

18. Central Diagnostic Laboratory, Maastricht University Medical Centre, Maastricht, The Netherlands;

19. Katharine Dormandy Haemophilia Centre and Thrombosis Unit, The Royal Free Hospital, London, United Kingdom; and

20. Department of Haematology, Medical School, University College London, London, United Kingdom

Abstract

This paper reports on the use of a high-throughput diagnostic genetic screening for coagulation, platelet, or thrombotic disorders in a series of more than 2000 patients.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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