The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”
Identifieur interne : 007159 ( Main/Exploration ); précédent : 007158; suivant : 007160The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”
Auteurs : Heather J. Howard [Australie] ; Ourania Horaitis [Australie] ; Richard G. H. Cotton [Australie] ; Mauno Vihinen [Finlande] ; Raymond Dalgleish [Royaume-Uni] ; Peter Robinson [Allemagne] ; Anthony J. Brookes [Allemagne] ; Myles Axton [États-Unis] ; Robert Hoffmann [États-Unis] ; Sylvie Tuffery-Giraud [France]Source :
- Human Mutation [ 1059-7794 ] ; 2010-03.
Descripteurs français
- Wicri :
- topic : Base de données, Ontologie.
English descriptors
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- Teeft :
Abstract
The May 2009 Human Variome Project (HVP) Forum “Towards Establishing Standards” was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagnostic laboratories for broader distribution to the medical genetics research community. Methods for researchers to receive credit for their effort at mutation detection were also discussed. Hum Mutat 31:1–2, 2010. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.21175
Affiliations:
- Allemagne, Australie, Finlande, France, Royaume-Uni, États-Unis
- Berlin, Languedoc-Roussillon, Massachusetts, Occitanie (région administrative), État de New York
- Berlin, Montpellier
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Methods for researchers to receive credit for their effort at mutation detection were also discussed. Hum Mutat 31:1–2, 2010. © 2010 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Finlande</li><li>France</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Berlin</li><li>Languedoc-Roussillon</li><li>Massachusetts</li><li>Occitanie (région administrative)</li><li>État de New York</li></region><settlement><li>Berlin</li><li>Montpellier</li></settlement></list><tree><country name="Australie"><noRegion><name sortKey="Howard, Heather J" sort="Howard, Heather J" uniqKey="Howard H" first="Heather J." last="Howard">Heather J. Howard</name></noRegion><name sortKey="Cotton, Richard G H" sort="Cotton, Richard G H" uniqKey="Cotton R" first="Richard G. H." last="Cotton">Richard G. H. Cotton</name><name sortKey="Cotton, Richard G H" sort="Cotton, Richard G H" uniqKey="Cotton R" first="Richard G. H." last="Cotton">Richard G. H. Cotton</name><name sortKey="Horaitis, Ourania" sort="Horaitis, Ourania" uniqKey="Horaitis O" first="Ourania" last="Horaitis">Ourania Horaitis</name><name sortKey="Howard, Heather J" sort="Howard, Heather J" uniqKey="Howard H" first="Heather J." last="Howard">Heather J. Howard</name></country><country name="Finlande"><noRegion><name sortKey="Vihinen, Mauno" sort="Vihinen, Mauno" uniqKey="Vihinen M" first="Mauno" last="Vihinen">Mauno Vihinen</name></noRegion></country><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="Allemagne"><region name="Berlin"><name sortKey="Robinson, Peter" sort="Robinson, Peter" uniqKey="Robinson P" first="Peter" last="Robinson">Peter Robinson</name></region><name sortKey="Brookes, Anthony J" sort="Brookes, Anthony J" uniqKey="Brookes A" first="Anthony J." last="Brookes">Anthony J. 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