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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.

Authors :
Gomez K
Laffan M
Keeney S
Sutherland M
Curry N
Lunt P
Source :
Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2019 Jan; Vol. 25 (1), pp. 116-126.
Publication Year :
2019

Abstract

This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had specific training in genetic testing methodology or reporting. It deals with uncertainty in classification of variant pathogenicity and the handling of incidental findings.<br /> (© 2019 John Wiley & Sons Ltd.)

Details

Language :
English
ISSN :
1365-2516
Volume :
25
Issue :
1
Database :
MEDLINE
Journal :
Haemophilia : the official journal of the World Federation of Hemophilia
Publication Type :
Academic Journal
Accession number :
30664826
Full Text :
https://doi.org/10.1111/hae.13637