HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
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Auteurs : Johan T. Den Dunnen ; Raymond Dalgleish [Royaume-Uni] ; Donna R. Maglott [États-Unis] ; Reece K. Hart [États-Unis] ; Marc S. Greenblatt [États-Unis] ; Jean Mcgowan-Jordan [Canada] ; Anne-Francoise Roux [France] ; Timothy Smith [Australie] ; Stylianos E. Antonarakis [Suisse] ; Peter E M. Taschner [Pays-Bas]Source :
- Human mutation [ 1098-1004 ] ; 2016.
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.
DOI: 10.1002/humu.22981
PubMed: 26931183
Affiliations:
- Australie, Canada, France, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Californie, Hollande-Méridionale, Languedoc-Roussillon, Maryland, Occitanie (région administrative), Vermont, Victoria (État)
- Leyde, Melbourne, Montpellier
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Antonarakis</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetic Medicine, University of Geneva Medical School, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Taschner, Peter E M" sort="Taschner, Peter E M" uniqKey="Taschner P" first="Peter E M" last="Taschner">Peter E M. Taschner</name><affiliation wicri:level="3"><nlm:affiliation>Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Californie</li><li>Hollande-Méridionale</li><li>Languedoc-Roussillon</li><li>Maryland</li><li>Occitanie (région administrative)</li><li>Vermont</li><li>Victoria (État)</li></region><settlement><li>Leyde</li><li>Melbourne</li><li>Montpellier</li></settlement></list><tree><noCountry><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T" last="Den Dunnen">Johan T. Den Dunnen</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Dalgleish, Raymond" sort="Dalgleish, Raymond" uniqKey="Dalgleish R" first="Raymond" last="Dalgleish">Raymond Dalgleish</name></noRegion></country><country name="États-Unis"><region name="Maryland"><name sortKey="Maglott, Donna R" sort="Maglott, Donna R" uniqKey="Maglott D" first="Donna R" last="Maglott">Donna R. Maglott</name></region><name sortKey="Greenblatt, Marc S" sort="Greenblatt, Marc S" uniqKey="Greenblatt M" first="Marc S" last="Greenblatt">Marc S. Greenblatt</name><name sortKey="Hart, Reece K" sort="Hart, Reece K" uniqKey="Hart R" first="Reece K" last="Hart">Reece K. Hart</name></country><country name="Canada"><noRegion><name sortKey="Mcgowan Jordan, Jean" sort="Mcgowan Jordan, Jean" uniqKey="Mcgowan Jordan J" first="Jean" last="Mcgowan-Jordan">Jean Mcgowan-Jordan</name></noRegion></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Roux, Anne Francoise" sort="Roux, Anne Francoise" uniqKey="Roux A" first="Anne-Francoise" last="Roux">Anne-Francoise Roux</name></region></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Smith, Timothy" sort="Smith, Timothy" uniqKey="Smith T" first="Timothy" last="Smith">Timothy Smith</name></region></country><country name="Suisse"><noRegion><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E" last="Antonarakis">Stylianos E. Antonarakis</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Taschner, Peter E M" sort="Taschner, Peter E M" uniqKey="Taschner P" first="Peter E M" last="Taschner">Peter E M. Taschner</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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