DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseases

Núria Queralt-Rosinach; Janet Piñero; Àlex Bravo; Ferran Sanz; Laura I Furlong

doi:10.1093/bioinformatics/btw214

DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseases

Bioinformatics. 2016 Jul 15;32(14):2236-8. doi: 10.1093/bioinformatics/btw214. Epub 2016 Apr 22.

Authors

Núria Queralt-Rosinach¹, Janet Piñero¹, Àlex Bravo¹, Ferran Sanz¹, Laura I Furlong¹

Affiliation

¹ Integrative Biomedical Informatics (IBI) Group, Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences (DCEXS), Universitat Pompeu Fabra (UPF), C/Doctor Aiguader 88, E-08003 Barcelona, Spain.

Abstract

Motivation: DisGeNET-RDF makes available knowledge on the genetic basis of human diseases in the Semantic Web. Gene-disease associations (GDAs) and their provenance metadata are published as human-readable and machine-processable web resources. The information on GDAs included in DisGeNET-RDF is interlinked to other biomedical databases to support the development of bioinformatics approaches for translational research through evidence-based exploitation of a rich and fully interconnected linked open data.

Availability and implementation: http://rdf.disgenet.org/

Contact: support@disgenet.org.

MeSH terms

Computational Biology*
Databases, Factual
Disease / genetics*
Humans
Internet
Semantics*