Thursday, 14th March, 2019, 12:00

The DisGeNET knowledge management platform for disease genomics

The rapid advances in disease genomics and genetics of the last two decades have made it possible to catalog a large volume of genetic alterations found in patients for a broad spectrum of diseases: cancer, Mendelian, rare, and complex diseases. These data are freely available, but scattered across different repositories and catalogs. Furthermore, accessing, navigating and analyzing this information is a challenge due to its heterogeneity, and lack of standardization. To overcome these challenges, we have developed DisGeNET (http://www.disgenet.org), one of the largest available repositories of genes and variants involved in human diseases. In the seminar, we will present the release 6.0 of DisGeNET, and discuss several case studies, in the areas of drug discovery and disease genomics.

Speaker: Janet Piñero, Integrative Biomedical Informatics - Research Programme on Biomedical Informatics (GRIB, IMIM/UPF)

Room Aula 473.10 (PRBB, 4th floor)