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

Details

Serval ID
serval:BIB_78BF94F89FAB
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation.
Journal
Human Mutation
Author(s)
Famiglietti M.L., Estreicher A., Gos A., Bolleman J., Géhant S., Breuza L., Bridge A., Poux S., Redaschi N., Bougueleret L., Xenarios I.
Working group(s)
UniProt Consortium
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Publication state
Published
Issued date
2014
Volume
35
Number
8
Pages
927-935
Language
english
Abstract
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.
Keywords
UniProtKB/Swiss-Prot, database, manual curation, genetic variants, disease, functional annotation, controlled vocabulary
Pubmed
Web of science
Open Access
Yes
Create date
21/08/2014 9:47
Last modification date
20/08/2019 15:35
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