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

Human mutation - 1 Aug 2014

Famiglietti Maria Livia, Estreicher Anne, Gos Arnaud, Bolleman Jerven, Géhant Sébastien, Breuza Lionel, Bridge Alan, Poux Sylvain, Redaschi Nicole, Bougueleret Lydie, Xenarios Ioannis

Abstract excerpt

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...

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PMID: 24848695
DOI: 10.1002/humu.22594
PMCID: PMC4107114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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