Detection of aberrant splicing events in RNA-seq data using FRASER

Aberrant splicing is a major contributor to rare disease, but detection accuracy using current methods is limited. Here, the authors develop an algorithm that detects aberrant splicing and intron retention events from RNA-seq data and apply it to diagnosis in mitochondrial disease.

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Autores principales:	Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d817b03e44e24e348c43693c66ebb662
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spelling	oai:doaj.org-article:d817b03e44e24e348c43693c66ebb6622021-12-02T14:18:55ZDetection of aberrant splicing events in RNA-seq data using FRASER10.1038/s41467-020-20573-72041-1723https://doaj.org/article/d817b03e44e24e348c43693c66ebb6622021-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-20573-7https://doaj.org/toc/2041-1723Aberrant splicing is a major contributor to rare disease, but detection accuracy using current methods is limited. Here, the authors develop an algorithm that detects aberrant splicing and intron retention events from RNA-seq data and apply it to diagnosis in mitochondrial disease.Christian MertesInes F. SchellerVicente A. YépezMuhammed H. ÇelikYingjiqiong LiangLaura S. KremerMirjana GusicHolger ProkischJulien GagneurNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Christian Mertes Ines F. Scheller Vicente A. Yépez Muhammed H. Çelik Yingjiqiong Liang Laura S. Kremer Mirjana Gusic Holger Prokisch Julien Gagneur Detection of aberrant splicing events in RNA-seq data using FRASER
description	Aberrant splicing is a major contributor to rare disease, but detection accuracy using current methods is limited. Here, the authors develop an algorithm that detects aberrant splicing and intron retention events from RNA-seq data and apply it to diagnosis in mitochondrial disease.
format	article
author	Christian Mertes Ines F. Scheller Vicente A. Yépez Muhammed H. Çelik Yingjiqiong Liang Laura S. Kremer Mirjana Gusic Holger Prokisch Julien Gagneur
author_facet	Christian Mertes Ines F. Scheller Vicente A. Yépez Muhammed H. Çelik Yingjiqiong Liang Laura S. Kremer Mirjana Gusic Holger Prokisch Julien Gagneur
author_sort	Christian Mertes
title	Detection of aberrant splicing events in RNA-seq data using FRASER
title_short	Detection of aberrant splicing events in RNA-seq data using FRASER
title_full	Detection of aberrant splicing events in RNA-seq data using FRASER
title_fullStr	Detection of aberrant splicing events in RNA-seq data using FRASER
title_full_unstemmed	Detection of aberrant splicing events in RNA-seq data using FRASER
title_sort	detection of aberrant splicing events in rna-seq data using fraser
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d817b03e44e24e348c43693c66ebb662
work_keys_str_mv	AT christianmertes detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT inesfscheller detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT vicenteayepez detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT muhammedhcelik detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT yingjiqiongliang detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT lauraskremer detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT mirjanagusic detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT holgerprokisch detectionofaberrantsplicingeventsinrnaseqdatausingfraser AT juliengagneur detectionofaberrantsplicingeventsinrnaseqdatausingfraser
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Detection of aberrant splicing events in RNA-seq data using FRASER

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