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BioinformaticsbioRxiv

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

Nuria Queralt Rosinach, Janet Pinero, Alex Bravo Serrano, Ferran Sanz, Laura I Furlong

Abstract

MotivationDisGeNET-RDF makes available knowledge on the genetic basis of human diseases in the Semantic Web (SW). 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 (LOD).\n\nAvailabilityhttp://rdf.disgenet.org/\n\nContactsupport@disgenet.org

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