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 integr...

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Autores principales:	Zakaria Louadi, Maria L. Elkjaer, Melissa Klug, Chit Tong Lio, Amit Fenn, Zsolt Illes, Dario Bongiovanni, Jan Baumbach, Tim Kacprowski, Markus List, Olga Tsoy
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Alternative splicing Differential splicing Functional enrichment Systems biology Protein-protein interactions Disease pathways Biology (General) QH301-705.5 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/4c0fecaa3f3d44588d58bb08e10ab366
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id	oai:doaj.org-article:4c0fecaa3f3d44588d58bb08e10ab366
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spelling	oai:doaj.org-article:4c0fecaa3f3d44588d58bb08e10ab3662021-12-05T12:25:34ZFunctional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases10.1186/s13059-021-02538-11474-760Xhttps://doaj.org/article/4c0fecaa3f3d44588d58bb08e10ab3662021-12-01T00:00:00Zhttps://doi.org/10.1186/s13059-021-02538-1https://doaj.org/toc/1474-760XAbstract 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.Zakaria LouadiMaria L. ElkjaerMelissa KlugChit Tong LioAmit FennZsolt IllesDario BongiovanniJan BaumbachTim KacprowskiMarkus ListOlga TsoyBMCarticleAlternative splicingDifferential splicingFunctional enrichmentSystems biologyProtein-protein interactionsDisease pathwaysBiology (General)QH301-705.5GeneticsQH426-470ENGenome Biology, Vol 22, Iss 1, Pp 1-22 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Alternative splicing Differential splicing Functional enrichment Systems biology Protein-protein interactions Disease pathways Biology (General) QH301-705.5 Genetics QH426-470
spellingShingle	Alternative splicing Differential splicing Functional enrichment Systems biology Protein-protein interactions Disease pathways Biology (General) QH301-705.5 Genetics QH426-470 Zakaria Louadi Maria L. Elkjaer Melissa Klug Chit Tong Lio Amit Fenn Zsolt Illes Dario Bongiovanni Jan Baumbach Tim Kacprowski Markus List Olga Tsoy Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
description	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.
format	article
author	Zakaria Louadi Maria L. Elkjaer Melissa Klug Chit Tong Lio Amit Fenn Zsolt Illes Dario Bongiovanni Jan Baumbach Tim Kacprowski Markus List Olga Tsoy
author_facet	Zakaria Louadi Maria L. Elkjaer Melissa Klug Chit Tong Lio Amit Fenn Zsolt Illes Dario Bongiovanni Jan Baumbach Tim Kacprowski Markus List Olga Tsoy
author_sort	Zakaria Louadi
title	Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
title_short	Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
title_full	Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
title_fullStr	Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
title_full_unstemmed	Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases
title_sort	functional enrichment of alternative splicing events with nease reveals insights into tissue identity and diseases
publisher	BMC
publishDate	2021
url	https://doaj.org/article/4c0fecaa3f3d44588d58bb08e10ab366
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Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases

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