Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona, Spain.
Nucleic Acids Res. 2020 Jan 8;48(D1):D845-D855. doi: 10.1093/nar/gkz1021.
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.
基因组医学面临的最紧迫挑战之一是了解遗传变异在健康和疾病中的作用。由于大规模探索基因组变异，已经发现了数十万个与疾病相关的基因座。然而，确定具有临床相关性的变异是一项重大挑战，需要全面询问先前的知识，并与新的实验结果联系起来。为了协助完成这项复杂的任务，我们创建了 DisGeNET（http://www.disgenet.org/），这是一个知识管理平台，整合和标准化了来自多个来源（包括科学文献）的与疾病相关的基因和变异数据。DisGeNET 涵盖了人类疾病的各个方面，以及正常和异常特征。当前版本涵盖了超过 24000 种疾病和特征、17000 个基因和 117000 个基因组变异。DisGeNET 的最新进展包括新的数据来源、新的数据属性和优先级指标、重新设计的网络界面和最近推出的 API。由于数据标准化、专家精心整理的信息与从科学文献中自动挖掘的数据相结合，以及一系列用于访问其公开数据的工具，DisGeNET 是一个可互操作的资源，支持基因组医学和药物研发中的各种应用。
