The DisGeNET knowledge platform for disease genomics: 2019 update

TLDR

Genomic medicine must understand how genetic variation influences health and disease, yet identifying clinically relevant variants remains difficult despite large-scale discovery of disease‑associated loci. The authors developed DisGeNET, a platform that integrates and standardizes disease‑associated gene and variant data from multiple sources to aid variant interpretation. DisGeNET spans all human diseases and traits, incorporating new data sources, attributes, prioritization metrics, a redesigned interface, and APIs. The current release includes over 24,000 diseases and traits, 17,000 genes, and 117,000 variants, and its standardized, curated, and mined data, along with tools, make it an interoperable resource for genomic medicine and drug development.

Abstract

Abstract One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large scale, hundreds of thousands of disease-associated loci have been uncovered. However, the identification of variants of clinical relevance is a significant challenge that requires comprehensive interrogation of previous knowledge and linkage to new experimental results. To assist in this complex task, we created DisGeNET (http://www.disgenet.org/), a knowledge management platform integrating and standardizing data about disease associated genes and variants from multiple sources, including the scientific literature. DisGeNET covers the full spectrum of human diseases as well as normal and abnormal traits. The current release covers more than 24 000 diseases and traits, 17 000 genes and 117 000 genomic variants. The latest developments of DisGeNET include new sources of data, novel data attributes and prioritization metrics, a redesigned web interface and recently launched APIs. Thanks to the data standardization, the combination of expert curated information with data automatically mined from the scientific literature, and a suite of tools for accessing its publicly available data, DisGeNET is an interoperable resource supporting a variety of applications in genomic medicine and drug R&D.