Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation.

Détails

ID Serval
serval:BIB_78BF94F89FAB
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation.
Périodique
Human Mutation
Auteur(s)
Famiglietti M.L., Estreicher A., Gos A., Bolleman J., Géhant S., Breuza L., Bridge A., Poux S., Redaschi N., Bougueleret L., Xenarios I.
Collaborateur(s)
UniProt Consortium
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Statut éditorial
Publié
Date de publication
2014
Volume
35
Numéro
8
Pages
927-935
Langue
anglais
Résumé
During the last few years, next-generation sequencing (NGS) technologies have accelerated the detection of genetic variants resulting in the rapid discovery of new disease-associated genes. However, the wealth of variation data made available by NGS alone is not sufficient to understand the mechanisms underlying disease pathogenesis and manifestation. Multidisciplinary approaches combining sequence and clinical data with prior biological knowledge are needed to unravel the role of genetic variants in human health and disease. In this context, it is crucial that these data are linked, organized, and made readily available through reliable online resources. The Swiss-Prot section of the Universal Protein Knowledgebase (UniProtKB/Swiss-Prot) provides the scientific community with a collection of information on protein functions, interactions, biological pathways, as well as human genetic diseases and variants, all manually reviewed by experts. In this article, we present an overview of the information content of UniProtKB/Swiss-Prot to show how this knowledgebase can support researchers in the elucidation of the mechanisms leading from a molecular defect to a disease phenotype.
Mots-clé
UniProtKB/Swiss-Prot, database, manual curation, genetic variants, disease, functional annotation, controlled vocabulary
Pubmed
Web of science
Open Access
Oui
Création de la notice
21/08/2014 8:47
Dernière modification de la notice
20/08/2019 14:35
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