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

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.

We received support from ISCIII-FEDER (PI13/00082, CP10/00524), from the IMI-JU under grants agreements no. 115002 (eTOX), no. 115191 (Open PHACTS), no. 115372 (EMIF) and no. 115735 (iPiE), resources of which are composed of financial contribution from the European Union’s Seventh Framework Programme (FP7/2007–2013) and EFPIA companies’ in kind contribution, and the EU H2020 Programme 2014–2020 under grant agreements no. 634143 (MedBioinformatics) and no. 676559 (Elixir-Excelerate). The Research Programme on Biomedical Informatics (GRIB) is a node of the Spanish National Institute of Bioinformatics (INB).