What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases-Reference-Cited by-同舟云学术

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What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases

Published:2016-03-14 Issue:6 Volume:37 Page:570-575
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tack Véronique¹,Deans Zandra C.²,Wolstenholme Nicola³,Patton Simon³,Dequeker Elisabeth M. C.¹

Affiliation:

1. Department of Public Health and Primary Care, Biomedical Quality Assurance Research Unit; KU Leuven; Leuven Belgium

2. Department of Laboratory Medicine, UK NEQAS for Molecular Genetics, UK NEQAS Edinburgh; The Royal Infirmary of Edinburgh; Edinburgh UK

3. EMQN, Manchester Centre for Genomic Medicine; St Mary's Hospital; Manchester M13 9WL UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22975/fullpdf

Reference19 articles.

1. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

2. The Brave New World of clinical cancer research: adaptive biomarker-driven trials integrating clinical practice with clinical research;Berry;Mol Oncol,2015

3. Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme;Berwouts;Hum Mutat,2011

4. The HUGO mutation database initiative. Human Genome Organization;Cotton;Pharmacogenomics J,2002

5. Locus reference genomic sequences: an improved basis for describing human DNA variants;Dalgleish;Genome Med,2010

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