Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation |
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| Authors: | Arnaud Gos Jerven Bolleman Sébastien Géhant Lionel Breuza Alan Bridge Sylvain Poux Nicole Redaschi Lydie Bougueleret Ioannis Xenarios the UniProt Consortium |
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| Affiliation: | 1. Swiss‐Prot Group, SIB Swiss Institute of Bioinformatics, Centre Medical Universitaire, Geneva, Switzerland;2. Vital‐IT Group, SIB Swiss Institute of Bioinformatics, Quartier Sorge, Batiment Génopode, Lausanne, Switzerland;3. Center for Integrative Genomics, Quartier Sorge, University of Lausanne, Lausanne, Switzerland;4. European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL‐EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK;5. Protein Information Resource, Georgetown University Medical Center, Washington, DC;6. Protein Information Resource, University of Delaware, Newark, Delaware |
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| 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. |
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| Keywords: | UniProtKB/Swiss‐Prot database manual curation genetic variants disease functional annotation controlled vocabulary |
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