Wednesday, 21th June, 2017, 12:00 - 13:00

DisGeNET discovery platform 5.0: Illuminating the study of human diseases

In the last few decades, our knowledge about the genetic underpinnings of human diseases has grown at an unprecedented pace. Data resulting from GWAS studies, experiments in animal models, and from exome sequencing pipelines are freely available, but scattered across several repositories. To enable translation of this wealth of knowledge into better disease biomarkers and drug therapies, this information should be made readily available to translational researchers and clinicians.

DisGeNET (http://www.disgenet.org/) is a platform that fulfills this need. It contains one of the largest available collections of genes and variants associated to human diseases. This is achieved by the integration of data from several specialized resources on gene and variant-disease associations with information extracted from automatically mining Medline abstracts. Here, we present DisGeNET 5.0, containing more than 500,000 gene-disease associations, and over 135,000 variant-disease associations. The associations are annotated using community-based standards, including a variety of disease vocabularies and are enriched and expanded by linking them to other key resources covering the chemical and omics spaces.

DisGeNET 5.0 also includes several new improvements, besides more disease associations: a) a new curated source: the PsyGeNET database, b) an improvement of the text-mining pipeline to extract gene-disease and variant-disease associations from publications, c) non-coding variants associated to disease, d) disease-phenotype associations, and e) gene-phenotype associations from the Human Phenotype Ontology. With its fifth release, DisGeNET is an established and mature resource, which is increasingly used in the investigation of the genetic basis of human diseases and to support drug discovery projects.

Speaker: Janet Piñero, Integrative Biomedical Informatics, GRIB (IMIM/UPF)

Room Aula 473.10 (PRBB, 4th floor)