DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes.
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes.
复制标题
DOI：
10.1093/database/bav028
复制
发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Furlong LI
中科院分区：
文献类型：
--
作者：
Piñero J;Queralt-Rosinach N;Bravo À;Deu-Pons J;Bauer-Mehren A;Baron M;Sanz F;Furlong LI
DisGeNet是一个全面的发现平台，旨在解决与人类疾病的遗传基础有关的各种问题。DisGeNet包含16000个基因和13种 000疾病之间的380多个 000关联，这使其成为目前可用的最大的同类存储库之一。DisGeNet将专家管理的数据库与文本挖掘数据相结合，涵盖孟德尔和复杂疾病的信息，并包括来自动物疾病模型的数据。它的特点是基于支持证据的分数，以确定基因与疾病的联系的优先顺序。它是一个开放获取的资源，可通过Web界面、Cytoscape插件和语义网资源使用。Web界面支持用户友好的数据浏览和导航。DisGeNET数据还可以通过DisGeNet Cytoscape插件进行分析，并使用这一流行的网络分析软件套件的其他插件的注释进行丰富。最后，DisGeNet中包含的信息可以使用语义网技术进行扩展和补充，并链接到链接的数据云中已有的各种资源。因此，DisGeNet提供了最全面的人类基因-疾病关联集合之一和一套宝贵的工具，用于研究遗传性疾病潜在的分子机制，旨在满足包括生物信息学家、生物学家和卫生保健从业者在内的不同用户的需求。数据库地址：http://www.disgenet.org/
DisGeNET is a comprehensive discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases. DisGeNET contains over 380 000 associations between >16 000 genes and 13 000 diseases, which makes it one of the largest repositories currently available of its kind. DisGeNET integrates expert-curated databases with text-mined data, covers information on Mendelian and complex diseases, and includes data from animal disease models. It features a score based on the supporting evidence to prioritize gene-disease associations. It is an open access resource available through a web interface, a Cytoscape plugin and as a Semantic Web resource. The web interface supports user-friendly data exploration and navigation. DisGeNET data can also be analysed via the DisGeNET Cytoscape plugin, and enriched with the annotations of other plugins of this popular network analysis software suite. Finally, the information contained in DisGeNET can be expanded and complemented using Semantic Web technologies and linked to a variety of resources already present in the Linked Data cloud. Hence, DisGeNET offers one of the most comprehensive collections of human gene-disease associations and a valuable set of tools for investigating the molecular mechanisms underlying diseases of genetic origin, designed to fulfill the needs of different user profiles, including bioinformaticians, biologists and health-care practitioners. Database URL: http://www.disgenet.org/
登录
查看更多内容
影响因子：
--
作者：
Cauchi S;Nead KT;Choquet H;Horber F;Potoczna N;Balkau B;Marre M;Charpentier G;Froguel P;Meyre D
通讯作者：
Meyre D
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：
14.9
作者：
Köhler S;Doelken SC;Mungall CJ;Bauer S;Firth HV;Bailleul-Forestier I;Black GC;Brown DL;Brudno M;Campbell J;FitzPatrick DR;Eppig JT;Jackson AP;Freson K;Girdea M;Helbig I;Hurst JA;Jähn J;Jackson LG;Kelly AM;Ledbetter DH;Mansour S;Martin CL;Moss C;Mumford A;Ouwehand WH;Park SM;Riggs ER;Scott RH;Sisodiya S;Van Vooren S;Wapner RJ;Wilkie AO;Wright CF;Vulto-van Silfhout AT;de Leeuw N;de Vries BB;Washingthon NL;Smith CL;Westerfield M;Schofield P;Ruef BJ;Gkoutos GV;Haendel M;Smedley D;Lewis SE;Robinson PN
通讯作者：
Robinson PN
影响因子：
--
作者：
Francis, GA;Li, G;Hegele, RA
通讯作者：
Hegele, RA
影响因子：
3
作者：
Gray, Alasdair J. G.;Groth, Paul;Williams, Antony J.
通讯作者：
Williams, Antony J.