The DisGeNET knowledge platform for disease genomics: 2019 update.

doi:10.1093/nar/gkz1021

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Article

The DisGeNET knowledge platform for disease genomics: 2019 update.

Nucleic acids research - 8 Jan 2020

Piñero Janet, Ramírez-Anguita Juan Manuel, Saüch-Pitarch Josep, Ronzano Francesco, Centeno Emilio, Sanz Ferran, Furlong Laura I

Abstract excerpt

One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large scale, hundreds of thousands of disease-associated loci have been uncovered. However, the identification of variants of clinical relevance is a significant challenge that requires comprehensive interrogation of previous...

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Identifiers

PMID: 31680165
DOI: 10.1093/nar/gkz1021
PMCID: PMC7145631

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.