New version of DisGeNET 6.0 and ELIXIR recognition

New version of DisGeNET 6.0 and ELIXIR recognition

News from IMIM

The GRIB Integrative Biomedical Informatics group (IMIM-UPF) has launched a new version of DisGeNET, a public knowledge management platform on the genomics of disease, which is celebrating its tenth anniversary this year. DisGeNET offers information on genes and genomic variants associated with human diseases, which is obtained by integrating more than a dozen public resources and the scientific literature. DisGeNET contains one of the most comprehensive collections of genes and variants associated with human diseases that is currently available.

The new version of DisGeNET (6.0) contains approximately 600,000 associations between more than 17,000 genes and 24,000 human diseases.

The RDF API, which allows DisGeNET to be exploited in an integrated way with other resources, has been selected as one of the 10 interoperability resources recommended by ELIXIR, the European organisation that brings together bioinformatics resources in life sciences. This recognition is awarded to resources that follow the FAIR (Findable, Accessible, Interoperable and Reusable) principles and which let computers automatically connect resources for complex queries.


More information:
IMIM website