HGVS Varnomen 2016.pdf (601.59 kB)

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

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posted on 08.04.2016, 10:05 by J. T. den Dunnen, Raymond Walter Miller Dalgleish, D. R. Maglott, R. K. Hart, M. S. Greenblatt, J. McGowan-Jordan, A. F. Roux, T. Smith, S. E. Antonarakis, P. E. Taschner, the Human Variome Project (HVP) and the Human Genome Organisation (HUGO) Human Genome Variation Society (HGVS)
The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at http://www.HGVS.org/varnomen. This article is protected by copyright. All rights reserved.

History

Citation

Human Mutation, 2016 (Early View)

Author affiliation

/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/MBSP Non-Medical Departments/Department of Genetics

Version

AM (Accepted Manuscript)

Published in

Human Mutation

Publisher

Wiley for Human Genome Variation Society

issn

1059-7794

eissn

1098-1004

Acceptance date

18/02/2016

Copyright date

2016

Available date

25/03/2017

Publisher version

http://onlinelibrary.wiley.com/doi/10.1002/humu.22981/abstract

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The file associated with this record is under a 12-month embargo from publication in accordance with the publisher's self-archiving policy. The full text may be available through the publisher links provided above.

Language

en

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