Whole-exome sequencing in evaluation of patients with venous thromboembolism

Author:

Lee Eun-Ju1,Dykas Daniel J.2,Leavitt Andrew D.34,Camire Rodney M.5,Ebberink Eduard6,García de Frutos Pablo7,Gnanasambandan Kavitha8,Gu Sean X.9,Huntington James A.10,Lentz Steven R.9,Mertens Koen6,Parish Christopher R.11,Rezaie Alireza R.12,Sayeski Peter P.8,Cromwell Caroline13,Bar Noffar14,Halene Stephanie14,Neparidze Natalia14,Parker Terri L.14,Burns Adrienne J.15,Dumont Anne15,Yao Xiaopan16,Chaar Cassius Iyad Ochoa17,Connors Jean M.18,Bale Allen E.2,Lee Alfred Ian14

Affiliation:

1. Division of Hematology, Department of Internal Medicine, Weill Cornell Medical College, New York, NY;

2. DNA Diagnostic Laboratory, Department of Genetics, Yale School of Medicine, New Haven, CT;

3. Department of Laboratory Medicine and

4. Department of Medicine, University of California, San Francisco, San Francisco, CA;

5. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA;

6. Department of Plasma Proteins, Sanquin Research, Amsterdam, The Netherlands;

7. Department of Cell Death and Proliferation, Institute of Biochemical Research, Barcelona, Spain;

8. Department of Physiology and Functional Genomics, University of Florida College of Medicine, Gainesville, FL;

9. Division of Hematology, Oncology, and Blood & Bone Marrow Transplantation, University of Iowa Carver College of Medicine, Iowa City, IA;

10. Department of Haematology, University of Cambridge, Cambridge, United Kingdom;

11. Department of Cancer Biology and Therapeutics, Australian National University, Canberra, Australia;

12. Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK;

13. Division of Hematology and Medical Oncology, Mount Sinai School of Medicine, New York, NY;

14. Section of Hematology, Department of Internal Medicine, Yale School of Medicine, New Haven, CT;

15. Yale Cancer Center, New Haven, CT;

16. Yale Center for Analytical Sciences, New Haven, CT;

17. Section of Vascular Surgery, Department of Surgery, Yale School of Medicine, New Haven, CT; and

18. Division of Hematology, Department of Internal Medicine, Brigham and Women’s Hospital, Boston, MA

Abstract

Key Points Using WES, we designed an extended thrombophilia panel consisting of 55 genes of significance to thrombosis. The extended thrombophilia panel identified multiple novel genetic variants with predicted roles in thrombosis or thrombophilia.

Publisher

American Society of Hematology

Subject

Hematology

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