Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper-Reference-Cited by-同舟云学术

Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper

Published:2019-01 Issue:1 Volume:25 Page:116-126
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Gomez Keith¹^ORCID,Laffan Mike²^ORCID,Keeney Steve³,Sutherland Megan³,Curry Nikki⁴^ORCID,Lunt Peter⁵

Affiliation:

1. Haemophilia Centre and Thrombosis Unit; Royal Free London NHS Foundation Trust; London UK

2. Centre for Haematology, Imperial College Academic Health Sciences Centre; Imperial College London; London UK

3. Molecular Haematology Service; Manchester University NHS Foundation Trust; Manchester UK

4. Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, and NIHR BRC Blood Theme; Oxford University; Oxford UK

5. Centre for Child & Adolescent Health; University of Bristol; Bristol UK

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13637/fullpdf

Reference31 articles.

1. Diagnosis of inherited bleeding disorders in the genomic era;Sivapalaratnam;Br J Haematol,2017

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

3. Guidelines for diagnostic next-generation sequencing;Matthijs;Eur J Hum Genet,2016

4. Ellard S Baple EL Owens M Eccles DM Abbs S Zandra C ACGS best practice guidelines for variant classification 2017 1 12

5. Keeney S Mitchell M Goodeve A Practice guidelines for the molecular diagnosis of haemophilia B. Clinical Molecular Genetics Society 2010

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