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

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 protein-protein and domain-domain 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.

Publication
Genome Biology

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Zakaria Louadi
Zakaria Louadi
Researcher at Illumina Artificial Intelligence Laboratory
Chit Tong Lio
Chit Tong Lio
Postdoctoral researcher
Amit Fenn
Amit Fenn
Postdoctoral Researcher at Helmholtz Munich
Olga Tsoy
Olga Tsoy
Group Leader