IRISCAT webinar: coping with the gene-disease big data: The DisGeNET platform


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IRISCAT webinar: coping with the gene-disease big data: The DisGeNET platform

03/03/2021 - 03/03/2021

Lloc: Online Web: Registration

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.

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Irsi Caixa

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Fundació 'La Caixa' Generalitat de Catalunya - Departament de Salut


HR Excellence in Research

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