Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.
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.
Swiss-Prot Group, SIB Swiss Institute of Bioinformatics, Centre Medical Universitaire, Geneva, Switzerland.
Maria Livia
ML
Famiglietti
Anne
A
Estreicher
Arnaud
A
Gos
Jerven
J
Bolleman
Sébastien
S
Géhant
Lionel
L
Breuza
Alan
A
Bridge
Sylvain
S
Poux
Nicole
N
Redaschi
Lydie
L
Bougueleret
Ioannis
I
Xenarios
D000595:Amino Acid Sequence; D030562:Databases, Protein / Q000706:statistics & numerical data*; D056726:Genetic Association Studies; D014644:Genetic Variation; D005826:Genetics, Medical; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020407:Internet; D051188:Knowledge Bases; D058977:Molecular Sequence Annotation; D008969:Molecular Sequence Data; D020543:Proteome; D012984:Software; D009626:Terminology as Topic
D020543:Proteome
UniProtKB/Swiss-Prot; controlled vocabulary; database; disease; functional annotation; genetic variants; manual curation