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DisGeNET：一个用于动态探索人类疾病及其基因的发现平台。

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes.

作者信息

Piñero Janet, Queralt-Rosinach Núria, Bravo Àlex, Deu-Pons Jordi, Bauer-Mehren Anna, Baron Martin, Sanz Ferran, Furlong Laura I

机构信息

Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.

Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany

出版信息

Database (Oxford). 2015 Apr 15;2015:bav028. doi: 10.1093/database/bav028. Print 2015.

DOI:10.1093/database/bav028
PMID:25877637
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4397996/
Abstract

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/

摘要

DisGeNET是一个综合性发现平台，旨在解决各种有关人类疾病遗传基础的问题。DisGeNET包含超过16,000个基因与13,000种疾病之间的380,000多个关联，这使其成为目前同类中最大的知识库之一。DisGeNET将专家策划的数据库与文本挖掘数据相结合，涵盖孟德尔疾病和复杂疾病的信息，并包括动物疾病模型的数据。它具有基于支持证据的评分，以便对基因-疾病关联进行优先级排序。它是一个开放获取资源，可通过网络界面、Cytoscape插件以及作为语义网资源获取。网络界面支持用户友好的数据探索和导航。DisGeNET数据也可以通过DisGeNET Cytoscape插件进行分析，并通过这个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，并链接到关联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，以及一套有价值的工具，用于研究遗传起源疾病的分子机制，旨在满足不同用户群体的需求，包括生物信息学家、生物学家和医疗从业者。数据库网址：http://www.disgenet.org/

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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35a6/4397996/e27ef0856562/bav028f8p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35a6/4397996/8e7b110e98a7/bav028f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35a6/4397996/c284707d7388/bav028f2p.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35a6/4397996/e27ef0856562/bav028f8p.jpg

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