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The DisGeNET cytoscape app: Exploring and visualizing disease genomics data

Open access
Piñero, Janet, Saüch, Josep, Sanz, Ferran, Furlong, Laura I.·2021·Computational and Structural Biotechnology Journal

Abstract

Thanks to the unbiased exploration of genomic variants at large scale, hundreds of thousands of disease-associated loci have been uncovered. In parallel, network-based approaches have proven to be essential to understand the molecular mechanisms underlying human diseases. The use of these approaches has been boosted by the abundance of information about disease associated genes and variants, high quality human interactomics data, and the emergence of new types of omics data. The DisGeNET Cytoscape App combines the capabilities of Cytoscape with those of DisGeNET, a knowledge platform based on a comprehensive catalogue of disease-associated genes and variants. The DisGeNET Cytoscape App contains functions to query, analyze, and visualize different network representations of the gene-disease and variant-disease associations available in DisGeNET. It supports a wide variety of applications through its query and filter functionalities, including the annotation of foreign networks generated by other apps or uploaded by the user. The new release of the DisGeNET Cytoscape App has been designed to support Cytoscape 3.x and incorporates novel distinctive features such as visualization and analysis of variant-disease networks, disease enrichment analysis for genes and variants, and analytic support through Cytoscape Automation. Moreover, the DisGeNET Cytoscape App features an API to access its core functionalities via the REST protocol fostering the development of reproducible and scalable analysis workflows based on DisGeNET data.

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Metadata

Authors
Piñero, J., Saüch, J., Sanz, F., & Furlong, L. I.
Venue
Computational and Structural Biotechnology Journal
Published
2021
Volume
19
Pages
2960-2967
ISSN
2001-0370 (ISSN-L)
OpenAlex
W3162538759
Cited by
544
References
18
FWCI
26.43
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: The DisGeNET cytoscape app: Exploring and visualizing disease genomics data. https://app.cochat.ai/papers/10.1016/j.csbj.2021.05.015
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Piñero, J., Saüch, J., Sanz, F., & Furlong, L. I. (2021). The DisGeNET cytoscape app: Exploring and visualizing disease genomics data. Computational and Structural Biotechnology Journal. https://doi.org/10.1016/j.csbj.2021.05.015

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Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.