Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
- 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.
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| Author: | Zakaria Louadi, Maria L. Elkjaer, Melissa Klug, Chit Tong Lio, Amit Fenn, Zsolt Illes, Dario BongiovanniORCiDGND, Jan Baumbach, Tim Kacprowski, Markus List, Olga Tsoy |
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| URN: | urn:nbn:de:bvb:384-opus4-1222612 |
| Frontdoor URL | https://opus.bibliothek.uni-augsburg.de/opus4/122261 |
| ISSN: | 1474-760XOPAC |
| Parent Title (English): | Genome Biology |
| Publisher: | Springer Science and Business Media LLC |
| Type: | Article |
| Language: | English |
| Year of first Publication: | 2021 |
| Publishing Institution: | Universität Augsburg |
| Release Date: | 2025/05/27 |
| Volume: | 22 |
| Issue: | 1 |
| First Page: | 327 |
| DOI: | https://doi.org/10.1186/s13059-021-02538-1 |
| Institutes: | Medizinische Fakultät |
| Medizinische Fakultät / Universitätsklinikum | |
| Medizinische Fakultät / Professur für Klinische und translationale Forschung in der Kardiologie | |
| Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Licence (German): |  CC-BY 4.0: Creative Commons: Namensnennung (mit Print on Demand) |
