Hotspot exons are common targets of splicing perturbations

Splicing-disrupting mutations are linked to diseases. By employing a machine learning approach, the authors show that certain exons, termed hotspot exons, are enriched for splicing-disruption variants and susceptible to splicing perturbations.

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Autores principales:	David T. Glidden, Jeramiah L. Buerer, Camillo F. Saueressig, William G. Fairbrother
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/504d517c7c5c44f5a7cb252a1c59d126
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spelling	oai:doaj.org-article:504d517c7c5c44f5a7cb252a1c59d1262021-12-02T17:15:23ZHotspot exons are common targets of splicing perturbations10.1038/s41467-021-22780-22041-1723https://doaj.org/article/504d517c7c5c44f5a7cb252a1c59d1262021-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-22780-2https://doaj.org/toc/2041-1723Splicing-disrupting mutations are linked to diseases. By employing a machine learning approach, the authors show that certain exons, termed hotspot exons, are enriched for splicing-disruption variants and susceptible to splicing perturbations.David T. GliddenJeramiah L. BuererCamillo F. SaueressigWilliam G. FairbrotherNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q David T. Glidden Jeramiah L. Buerer Camillo F. Saueressig William G. Fairbrother Hotspot exons are common targets of splicing perturbations
description	Splicing-disrupting mutations are linked to diseases. By employing a machine learning approach, the authors show that certain exons, termed hotspot exons, are enriched for splicing-disruption variants and susceptible to splicing perturbations.
format	article
author	David T. Glidden Jeramiah L. Buerer Camillo F. Saueressig William G. Fairbrother
author_facet	David T. Glidden Jeramiah L. Buerer Camillo F. Saueressig William G. Fairbrother
author_sort	David T. Glidden
title	Hotspot exons are common targets of splicing perturbations
title_short	Hotspot exons are common targets of splicing perturbations
title_full	Hotspot exons are common targets of splicing perturbations
title_fullStr	Hotspot exons are common targets of splicing perturbations
title_full_unstemmed	Hotspot exons are common targets of splicing perturbations
title_sort	hotspot exons are common targets of splicing perturbations
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/504d517c7c5c44f5a7cb252a1c59d126
work_keys_str_mv	AT davidtglidden hotspotexonsarecommontargetsofsplicingperturbations AT jeramiahlbuerer hotspotexonsarecommontargetsofsplicingperturbations AT camillofsaueressig hotspotexonsarecommontargetsofsplicingperturbations AT williamgfairbrother hotspotexonsarecommontargetsofsplicingperturbations
_version_	1718381259337498624

Hotspot exons are common targets of splicing perturbations

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