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

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 int...

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Detalles Bibliográficos
Autores principales: Queralt-Rosinach, Núria, Piñero, Janet, Bravo, Àlex, Sanz, Ferran, Furlong, Laura I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Applications Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937199/
https://www.ncbi.nlm.nih.gov/pubmed/27153650
http://dx.doi.org/10.1093/bioinformatics/btw214
Descripción
Sumario: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

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