DisGeNET: Difference between revisions

Revision as of 19:06, 15 August 2015

Revision as of 19:16, 15 August 2015

Line 24:

|curation =

}}

'''DisGeNET''' is a discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases. DisGeNET is one of the largest and comprehensive repositories of human gene-disease associations (GDAs) currently available <ref name=GaultonPinero>{{Cite journal | last =Piñero | first =J |author2=et al. | title =DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes | journal =[[DATABASE]] | volume = 2015 | issue = | pages = | year =2015 | url = | issn = | doi = doi:10.1093/database/bav028 | accessdate =}}</ref>. It also offers a set of bioinformatic tools to facilitate the analysis of these data by different user profiles. It is maintained by the [http://ibi.imim.es/ Integrative Biomedical Informatics (IBI) Group], of the (GRIB)-IMIM/UPF, based at the [[Barcelona Biomedical Research Park]] (PRBB), Barcelona, Catalonia, Spain.

==Scope and access==

In the pursuit to gather different aspects of the current knowledge on the genetic basis of human diseases, DisGeNET covers information on all disease areas (Mendelian, complex and environmental diseases). With more than 400 000 genotype-phenotype relationships from different origins integrated and annotated with explicit provenance and evidence information, DisGeNET is a valuable knowledge and evidence-based discovery resource for [[Translational Research]].

DisGeNET is an open access resource that makes available a comprehensive knowledge base on disease genes and different tools for their exploitation and analysis. DisGeNET is available through a [http://www.disgenet.org/ Web interface], a [[Cytoscape]] plugin<ref name="Bauer">Bauer-Mehren, A et al., "DisGeNET: a Cytoscape plugin to visualize, integrate, search and analyze gene–disease networks," ''Bioinformatics'', vol. 26, no. 22, pp. 2924-2926, 2010.</ref>, as [[linked data]] for the Semantic Web, and supports programmatic access to its data. These valuable set of tools allows investigating the molecular mechanisms underlying diseases of genetic origin, and are designed to support the data exploitation from different perspectives and to fulfil the needs of different types of users, including bioinformaticians, biologists and healthcare practitioners.

==Integrated data==

Line 38:

==Cytoscape plugin==

The DisGeNET Cytoscape plugin<ref name="Bauer" /> offers a network representation of the gene-disease associations. It represents gene-disease associations in terms of bipartite graphs and additionally provides gene centric and disease centric views of the data. It assists the user in the interpretation and exploration of human complex diseases with respect to their genetic origin by a variety of built-in functions. Using the DisGeNET Cytoscape plugin you can perform queries restricted to (i) the original data source, (ii) the association type, (iii) the disorder class of interest and (iv) specific diseases or genes.

==Linked Data==