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Medientyp:
E-Artikel
Titel:
Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
Beteiligte:
Louadi, Zakaria;
Elkjaer, Maria L.;
Klug, Melissa;
Lio, Chit Tong;
Fenn, Amit;
Illes, Zsolt;
Bongiovanni, Dario;
Baumbach, Jan;
Kacprowski, Tim;
List, Markus;
Tsoy, Olga
Erschienen:
Springer Science and Business Media LLC, 2021
Erschienen in:
Genome Biology, 22 (2021) 1
Sprache:
Englisch
DOI:
10.1186/s13059-021-02538-1
ISSN:
1474-760X
Entstehung:
Anmerkungen:
Beschreibung:
AbstractAlternative 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.