One of the most pressing challenges in genomic medicine is to understand the impact of genomic variation in disease and drug response. The large-scale interrogation of the human genome has uncovered hundreds of thousands of disease-associated loci. However, the identification of variants of clinical relevance still remains a challenge. Variant assessment involves manual exploration of multiple sources of data, which requires a significant amount of time and the involvement of experts in the domain. Bioinformatic tools and resources that enable the automation of every possible step in this process are crucial. DisGeNET is a knowledge platform that aggregates and standardizes data about disease associated genes and variants from multiple authoritative sources, complemented with the most recent findings extracted from the scientific literature by text mining. Due to its ample coverage of the disease spectrum, it can be applied to complex as well as rare diseases. The current release includes more than 30,000 diseases & traits, 21,000 genes and 195,000 variants. These data are enriched with information from other resources and with different scores and metrics to enable searching, filtering and prioritizing the data. The DisGeNET suite of tools facilitates data exploration and analysis by different types of users and supports the development of bioinformatic workflows and pipelines enabling automation and reproducibility of the analyses. DisGeNET is an ELIXIR Recommended Interoperability Resource that supports a variety of applications in genomic medicine and drug R&D, including rare disease diagnosis, interpretation of GWAs results and prioritization of drug targets.
Laura I. Furlong is head of the Integrative Biomedical Informatics Group of the Research Programme on Biomedical Informatics, GRIB (IMIM-UPF) and associate lecturer at the Universitat Pompeu Fabra (UPF). She has a PhD in Biology from the University of Buenos Aires, Argentina and a Msc in Bioinformatics by University Pompeu Fabra. With more than 15 years of experience in translational bioinformatics, one of her main interests is to translate cutting edge bioinformatics research into real world clinical and industrial applications. Her current research is focused in the areas of systems medicine and systems toxicology, text mining and knowledge management. Director of 4 doctoral theses. She has published over 75 peer-reviewed articles. She has participated in several FP7 projects (@neurist, EU-ADR), IMI projects like OpenPHACTS, eTOX, EMIF and H2020 projects like MedBioinformatics. She is currently involved in the IMI projects FAIRplus, eTRANSAFE and TransQST and the RIS3CAT-VEIS project. Her group provides several software and resources, among them the knowledge platform DisGeNET, a Recommended Interoperability Resource by ELIXIR