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Geneapp: A web application for visualizing alternative splicing for biomedicine.

Authors :
Fernandes M
Mario de Andrade E
Reis da Silva SG
Romagnoli VDS
Ortega JM
Antônio de Oliveira Mendes T
Source :
Computers in biology and medicine [Comput Biol Med] 2024 Aug; Vol. 178, pp. 108789. Date of Electronic Publication: 2024 Jun 26.
Publication Year :
2024

Abstract

Alternative Splicing (AS) is an essential mechanism for eukaryotes. However, the consequences of deleting a single exon can be dramatic for the organism and can lead to cancer in humans. Additionally, alternative 5' and 3' splice sites, which define the boundaries of exons, also play key roles to human disorders. Therefore, Investigating AS events is crucial for understanding the molecular basis of human diseases and developing therapeutic strategies. Workflow for AS event analysis can be sampling followed by data analysis with bioinformatics to identify the different AS events in the control and case samples, data visualization for curation, and selection of relevant targets for experimental validation. The raw output of the analysis software does not favor the inspection of events by bioinformaticians requiring custom scripts for data visualization. In this work, we propose the Geneapp application with three modules: GeneappScript, GeneappServer, and GeneappExplorer. GeneappScript is a wrapper that assists in identifying AS in samples compared in two different approaches, while GeneappServer integrates data from AS analysis already performed by the user. In GeneappExplorer, the user visualizes the previous dataset by exploring AS events in genes with functional annotation. This targeted screens that Geneapp allows to perform helps in the identification of targets for experimental validation to confirm the hypotheses under study. The Geneapp is freely available for non-commercial use at https://geneapp.net to advance research on AS for bioinformatics.<br />Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.<br /> (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Details

Language :
English
ISSN :
1879-0534
Volume :
178
Database :
MEDLINE
Journal :
Computers in biology and medicine
Publication Type :
Academic Journal
Accession number :
38936077
Full Text :
https://doi.org/10.1016/j.compbiomed.2024.108789