HGVS Recommendations for the Description of Sequence Variants: 2016 Update-Reference-Cited by-同舟云学术

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Published:2016-03-25 Issue:6 Volume:37 Page:564-569
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

den Dunnen Johan T.¹,Dalgleish Raymond²,Maglott Donna R.³,Hart Reece K.⁴,Greenblatt Marc S.⁵,McGowan-Jordan Jean⁶,Roux Anne-Francoise⁷,Smith Timothy⁸,Antonarakis Stylianos E.⁹,Taschner Peter E.M.¹⁰,

Affiliation:

1. Human Genetics & Clinical Genetics; Leiden University Medical Center; Leiden Nederland

2. Department of Genetics; University of Leicester; Leicester United Kingdom

3. National Center for Biotechnology Information; National Library of Medicine; National Institutes of Health; Bethesda Maryland

4. Invitae; Inc; San Francisco California

5. University of Vermont College of Medicine; Burlington Vermont

6. Children's Hospital of Eastern Ontario and University of Ottawa; Ottawa Ontario Canada

7. Laboratoire de Génétique Moléculaire; CHRU Montpellier; Montpellier France

8. Human Variome Project International Coordinating Office; Melbourne Australia

9. Department of Genetic Medicine; University of Geneva Medical School; Geneva Switzerland

10. Generade Centre of Expertise Genomics and University of Applied Sciences Leiden; Leiden The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22981/fullpdf

Reference18 articles.

1. Update on nomenclature for human gene mutations;Ad Hoc Committee on Mutation Nomenclature;Hum Mutat,1996

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

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

4. The changing meanings of “mutation:” a contextualized study of public discourse;Condit;Hum Mutat,2002

5. Communicating “mutation:” modern meanings and connotations;Cotton;Hum Mutat,2002

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