Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases

Zakaria Louadi, Maria L. Elkjaer, Melissa Klug, Chit Tong Lio, Amit Fenn, Zsolt Illes, Dario Bongiovanni, Jan Baumbach, Tim Kacprowski, Markus List, Olga Tsoy

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

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.

Original languageEnglish
Article number327
JournalGenome Biology
Volume22
Issue number1
DOIs
StatePublished - Dec 2021

Keywords

  • Alternative splicing
  • Differential splicing
  • Dilated cardiomyopathy
  • Disease pathways
  • Functional enrichment
  • Multiple sclerosis
  • Platelet activation
  • Protein-protein interactions
  • Systems biology

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