Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.

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

SUBMITTER: Famiglietti ML 

PROVIDER: S-EPMC4107114 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature