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Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
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Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
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Journal Article
Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
2021
Overview
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.
Publisher
BioMed Central,Springer Nature B.V,BMC
Subject
/ Animal Genetics and Genomics
/ Biomedical and Life Sciences
/ Cardiomyopathy, Dilated - genetics
/ Disease
/ genes
/ Humans
/ Method
/ Microbial Genetics and Genomics
/ Multiple Sclerosis - genetics
/ Ontology
/ Platelet Activation - genetics
/ Protein Interaction Maps - genetics
/ Protein-protein interactions
/ Proteins
/ tissues
