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

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

Author information

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.

PMID:
27153650
PMCID:
PMC4937199
DOI:
10.1093/bioinformatics/btw214
[Indexed for MEDLINE]
Free PMC Article

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