Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/37207
Title: HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Authors: den Dunnen, J. T.
Dalgleish, Raymond Walter Miller
Maglott, D. R.
Hart, R. K.
Greenblatt, M. S.
McGowan-Jordan, J.
Roux, A. F.
Smith, T.
Antonarakis, S. E.
Taschner, P. E.
Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the Human Genome Organisation (HUGO),
First Published: 25-Mar-2016
Publisher: Wiley for Human Genome Variation Society
Citation: Human Mutation, 2016 (Early View)
Abstract: 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.
DOI Link: 10.1002/humu.22981
ISSN: 1059-7794
eISSN: 1098-1004
Links: http://onlinelibrary.wiley.com/doi/10.1002/humu.22981/abstract
http://hdl.handle.net/2381/37207
Embargo on file until: 25-Mar-2017
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2016 WILEY PERIODICALS, INC. The file attached to this record is distributed under the Creative Commons “Attribution Non-Commercial No Derivatives” licence, further details of which can be found via the following link: http://creativecommons.org/licenses/by-nc-nd/4.0/
Description: 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.
Appears in Collections:Published Articles, Dept. of Genetics

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