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.


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*