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Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation
Author(s) -
Famiglietti Maria Livia,
Estreicher Anne,
Gos Arnaud,
Bolleman Jerven,
Géhant Sébastien,
Breuza Lionel,
Bridge Alan,
Poux Sylvain,
Redaschi Nicole,
Bougueleret Lydie,
Xenarios Ioannis
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22594
Subject(s) - uniprot , biology , context (archaeology) , data curation , computational biology , disease , human disease , multidisciplinary approach , data science , bioinformatics , genetics , gene , computer science , medicine , paleontology , social science , pathology , sociology
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.