DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants.
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants.
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DOI：
10.1093/nar/gkw943
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发表时间：
2017-01-04
影响因子：
14.9
通讯作者：
Furlong LI
中科院分区：
文献类型：
--
作者：
Piñero J;Bravo À;Queralt-Rosinach N;Gutiérrez-Sacristán A;Deu-Pons J;Centeno E;García-García J;Sanz F;Furlong LI
有关人类疾病遗传基础的信息是精准医学和药物研发的核心。然而，要充分发挥其支持这些目标的潜力，必须克服一些问题，例如数据的碎片化、异质性、可用性以及不同的概念化等问题。为了给相关领域提供一个没有这些障碍的资源，我们开发了DisGeNET（http://www.disgenet.org），它是现有的关于人类疾病相关基因和变异的最大集合之一。DisGeNET整合了来自专家整理的知识库、全基因组关联研究（GWAS）目录、动物模型以及科学文献的数据。DisGeNET的数据使用受控词汇表和社区驱动的本体进行了统一标注。此外，还提供了一些独创的指标来辅助基因型 - 表型关系的优先级排序。这些信息可以通过网络界面、Cytoscape应用程序、RDF SPARQL端点、多种编程语言的脚本以及一个R包获取。DisGeNET是一个多功能平台，可用于不同的研究目的，包括对特定人类疾病及其合并症的分子基础的研究、疾病基因特性的分析、关于药物治疗作用和药物不良反应的假设生成、计算机预测的疾病基因的验证以及文本挖掘方法性能的评估。
The information about the genetic basis of human diseases lies at the heart of precision medicine and drug discovery. However, to realize its full potential to support these goals, several problems, such as fragmentation, heterogeneity, availability and different conceptualization of the data must be overcome. To provide the community with a resource free of these hurdles, we have developed DisGeNET (http://www.disgenet.org), one of the largest available collections of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. DisGeNET data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype–phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, scripts in several programming languages and an R package. DisGeNET is a versatile platform that can be used for different research purposes including the investigation of the molecular underpinnings of specific human diseases and their comorbidities, the analysis of the properties of disease genes, the generation of hypothesis on drug therapeutic action and drug adverse effects, the validation of computationally predicted disease genes and the evaluation of text-mining methods performance.
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影响因子：
1.9
作者：
Hansen, Marcus Celik;Nederby, Line;Hokland, Peter
通讯作者：
Hokland, Peter
影响因子：
5.7
作者：
Alaimo S;Giugno R;Pulvirenti A
通讯作者：
Pulvirenti A
DOI：
10.1093/bioinformatics/btt765
发表时间：
2014-05-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Jupp S;Malone J;Bolleman J;Brandizi M;Davies M;Garcia L;Gaulton A;Gehant S;Laibe C;Redaschi N;Wimalaratne SM;Martin M;Le Novère N;Parkinson H;Birney E;Jenkinson AM
通讯作者：
Jenkinson AM
影响因子：
5.8
作者：
Bauer-Mehren, Anna;Rautschka, Michael;Furlong, Laura I.
通讯作者：
Furlong, Laura I.
影响因子：
24.3
作者：
Faner, Rosa;Gutierrez-Sacristan, Alba;Agusti, Alvar
通讯作者：
Agusti, Alvar