Publication:
IntroVerse: a comprehensive database of introns across human tissues

Thumbnail Image
Files
gkac1056.pdf(2.78 MB)
Date
2022-11-18
relationships.isAuthorOfPublication
Profile Picture
Person
Profile Picture
Person
relationships.isSecondaryAuthorOf
relationships.isDirectorOf
Authors
Garcia-Ruiz, Sonia ; Gustavsson, Emil K. ; Zhang, David ; Reynolds, Regina H. ; Chen, Zhongbo ; Fairbrother-Browne, Aine ; Gil Martínez, Ana Luisa ; Botía Blaya, Juan Antonio ; Collado-Torres, Leonardo ; Ryten, Mina
item.page.secondaryauthor
Facultades de la UMU::Facultad de Informática
item.page.director
Publisher
Oxford University Press
publication.page.editor
publication.page.department
Ingeniería de la Información y las Comunicaciones
DOI
https://doi.org/10.1093/nar/gkac1056
item.page.type
info:eu-repo/semantics/article
Description
Abstract
Dysregulation of RNA splicing contributes to both rare and complex diseases. RNA-sequencing data from human tissues has shown that this process can be inaccurate, resulting in the presence of novel introns detected at low frequency across samples and within an individual. To enable the full spectrum of intron use to be explored, we have developed Intro- Verse, which offers an extensive catalogue on the splicing of 332,571 annotated introns and a linked set of 4,679,474 novel junctions covering 32,669 different genes. This dataset has been generated through the analysis of 17,510 human control RNA samples from 54 tissues provided by the Genotype-Tissue Expression Consortium. IntroVerse has two unique features: (i) it provides a complete catalogue of novel junctions and (ii) each novel junction has been assigned to a specific annotated intron. This unique, hierarchical structure offers multiple uses, including the identification of novel transcripts from known genes and their tissue-specific usage, and the assessment of background splicing noise for introns thought to be mis-spliced in disease states. Intro-Verse provides a user-friendly web interface and is freely available at https://rytenlab.com/browser/app/introverse.
publication.page.subject
Citation
García-Ruiz S, Gustavsson EK, Zhang D, Reynolds RH, Chen Z, Fairbrother-Browne A, Gil-Martínez AL, Botia JA, Collado-Torres L, Ryten M. IntroVerse: a comprehensive database of introns across human tissues. Nucleic Acids Res. 2023 Jan 6;51(D1):D167-D178. doi: 10.1093/nar/gkac1056.
URI
http://hdl.handle.net/10201/217041
item.page.embargo
Collections
Artículos
Ir a Estadísticas