Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative-Reference-Cited by-同舟云学术

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative

Published:2017-05-18 Issue:13 Volume:1 Page:824-834
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Johnsen Jill M.¹²,Fletcher Shelley N.¹,Huston Haley¹,Roberge Sarah¹,Martin Beth K.³,Kircher Martin³,Josephson Neil C.⁴,Shendure Jay³⁵,Ruuska Sarah¹,Koerper Marion A.⁶,Morales Jaime⁷,Pierce Glenn F.⁶,Aschman Diane J.⁸,Konkle Barbara A.¹²

Affiliation:

1. Bloodworks Northwest, Seattle, WA;

2. Department of Medicine and

3. Department of Genome Sciences, University of Washington, Seattle, WA;

4. Seattle Genetics, Bothell, WA;

5. Howard Hughes Medical Institute, Chevy Chase, MD;

6. National Hemophilia Foundation, New York, NY;

7. Bioverativ, Waltham, MA; and

8. American Thrombosis and Hemostasis Network, Chicago, IL

Abstract

Key Points MLOF used an innovative approach to genotype 3000 hemophilia patients identifying likely causative variants in 98.4% of patients. Hemophilia genotyping should include structural variation, F8 inversions (for hemophilia A), and consideration of gene-wide approaches.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/1/13/824/877153/advances002923.pdf

Reference45 articles.

1. European Association for Haemophilia and Allied Disorders (EAHAD). Coagulation Factor VIII Variant Database. http://www.factorviii-db.org. Accessed March 2016.

2. European Association for Haemophilia and Allied Disorders (EAHAD). Coagulation Factor IX Variant Database. http://www.factorix.org. Accessed March 2016.

3. Centers for Disease Control and Prevention (CDC). CDC Hemophilia A Mutation Project (CHAMP). Available at: http://www.cdc.gov/ncbddd/hemophilia/champs.html. Accessed March 2016.

4. Centers for Disease Control and Prevention (CDC). CDC Hemophilia B Mutation Project (CHBMP). Available at: http://www.cdc.gov/ncbddd/hemophilia/champs.html. Accessed March 2016.

5. Vidal F, Gallardo, D. Hemobase. http://www.hemobase.com. Accessed October 2016.

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