HGVS Recommendations for the Description of Sequence Variants: 2016 Update

被引：1202

作者：

den Dunnen, Johan T. ^{[1
]}

Dalgleish, Raymond ^{[2
]}

Maglott, Donna R. ^{[3
]}

Hart, Reece K. ^{[4
]}

Greenblatt, Marc S. ^{[5
]}

McGowan-Jordan, Jean ^{[6
,7
]}

Roux, Anne-Francoise ^{[8
]}

Smith, Timothy ^{[9
]}

Antonarakis, Stylianos E. ^{[10
]}

Taschner, Peter E. M. ^{[11
,12
]}

机构：

[1] Leiden Univ, Med Ctr, Human Genet & Clin Genet, NL-2300 RC Leiden, Netherlands

[2] Univ Leicester, Dept Genet, Univ Rd, Leicester LE1 7RH, Leics, England

[3] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA

[4] Invitae Inc, San Francisco, CA USA

[5] Univ Vermont, Coll Med, Burlington, VT USA

[6] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada

[7] Univ Ottawa, Ottawa, ON, Canada

[8] CHRU Montpellier, Genet Mol Lab, Montpellier, France

[9] Int Coordinating Off, Human Variome Project, Melbourne, Vic, Australia

[10] Univ Geneva, Sch Med, Dept Genet Med, CH-1211 Geneva, Switzerland

[11] Generade Ctr Expertise Genom, Leiden, Netherlands

[12] Univ Appl Sci Leiden, Leiden, Netherlands

来源：

HUMAN MUTATION | 2016年 / 37卷 / 06期

关键词：

standards; sequence variation; mutation; database; nomenclature; MUTATION NOMENCLATURE; MEANINGS;

D O I：

10.1002/humu.22981

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 .

引用

页码：564 / 569

页数：6

共 18 条

[1]

Antonarakis SE, 1998, HUM MUTAT, V11, P1

[2]

Beaudet AL, 1996, HUM MUTAT, V8, P197

[3] Mutation Nomenclature in Practice: Findings and Recommendations from the Cystic Fibrosis External Quality Assessment Scheme [J].

Berwouts, Sarah ;

Morris, Michael A. ;

Girodon, Emmanuelle ;

Schwarz, Martin ;

Stuhrmann, Manfred ;

Dequeker, Elisabeth .

HUMAN MUTATION, 2011, 32 (11) :1197-1203

[4] The changing meanings of "mutation": A contextualized study of public discourse [J].

Condit, CM ;

Achter, PJ ;

Lauer, I ;

Sefcovic, E .

HUMAN MUTATION, 2002, 19 (01) :69-75

[5]

CORNISHBOWDEN A, 1984, EUR J BIOCHEM, V138, P9, DOI 10.1111/j.1432-1033.1984.tb07877.x

[6] Communicating "Mutation": Modern meanings and connotations [J].

Cotton, RGH .

HUMAN MUTATION, 2002, 19 (01) :2-3

[7] Locus Reference Genomic sequences: an improved basis for describing human DNA variants [J].

Dalgleish, Raymond ;

Flicek, Paul ;

Cunningham, Fiona ;

Astashyn, Alex ;

Tully, Raymond E. ;

Proctor, Glenn ;

Chen, Yuan ;

McLaren, William M. ;

Larsson, Pontus ;

Vaughan, Brendan W. ;

Beroud, Christophe ;

Dobson, Glen ;

Lehvaeslaiho, Heikki ;

Taschner, Peter E. M. ;

den Dunnen, Johan T. ;

Devereau, Andrew ;

Birney, Ewan ;

Brookes, Anthony J. ;

Maglott, Donna R. .

GENOME MEDICINE, 2010, 2

[8]

den Dunnen JT, 2000, HUM MUTAT, V15, P7

[9]

Gulley ML, 2007, ARCH PATHOL LAB MED, V131, P852

[10] A Python']Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature [J].

Hart, Reece K. ;

Rico, Rudolph ;

Hare, Emily ;

Garcia, John ;

Westbrook, Jody ;

Fusaro, Vincent A. .

BIOINFORMATICS, 2015, 31 (02) :268-270

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