Recommendations for locus-specific databases and their curation.

Détails

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Etat: Public
Version: de l'auteur⸱e
ID Serval
serval:BIB_380D9F5704BD
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Recommendations for locus-specific databases and their curation.
Périodique
Human Mutation
Auteur⸱e⸱s
Cotton R.G., Auerbach A.D., Beckmann J.S., Blumenfeld O.O., Brookes A.J., Brown A.F., Carrera P., Cox D.W., Gottlieb B., Greenblatt M.S., Hilbert P., Lehvaslaiho H., Liang P., Marsh S., Nebert D.W., Povey S., Rossetti S., Scriver C.R., Summar M., Tolan D.R., Verma I.C., Vihinen M., den Dunnen J.T.
ISSN
1059-7794
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
29
Numéro
1
Pages
2-5
Langue
anglais
Résumé
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.
Mots-clé
Computational Biology, Databases, Genetic/standards, Databases, Genetic/statistics & numerical data, Expert Testimony, Genes, Genetic Markers, Genetic Variation, Guidelines as Topic, Humans, Mutation
Pubmed
Web of science
Création de la notice
13/10/2009 11:30
Dernière modification de la notice
20/08/2019 14:26
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