Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases.
Alternative splicing
Differential splicing
Dilated cardiomyopathy
Disease pathways
Functional enrichment
Multiple sclerosis
Platelet activation
Protein-protein interactions
Systems biology
Journal
Genome biology
ISSN: 1474-760X
Titre abrégé: Genome Biol
Pays: England
ID NLM: 100960660
Informations de publication
Date de publication:
02 12 2021
02 12 2021
Historique:
received:
15
07
2021
accepted:
10
11
2021
entrez:
3
12
2021
pubmed:
4
12
2021
medline:
16
3
2022
Statut:
epublish
Résumé
Alternative splicing (AS) is an important aspect of gene regulation. Nevertheless, its role in molecular processes and pathobiology is far from understood. A roadblock is that tools for the functional analysis of AS-set events are lacking. To mitigate this, we developed NEASE, a tool integrating pathways with structural annotations of protein-protein interactions to functionally characterize AS events. We show in four application cases how NEASE can identify pathways contributing to tissue identity and cell type development, and how it highlights splicing-related biomarkers. With a unique view on AS, NEASE generates unique and meaningful biological insights complementary to classical pathways analysis.
Identifiants
pubmed: 34857024
doi: 10.1186/s13059-021-02538-1
pii: 10.1186/s13059-021-02538-1
pmc: PMC8638120
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
327Informations de copyright
© 2021. The Author(s).
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