Publication: IntroVerse: a comprehensive database of introns across human tissues
| dc.contributor.author | Garcia-Ruiz, Sonia | |
| dc.contributor.author | Gustavsson, Emil K. | |
| dc.contributor.author | Zhang, David | |
| dc.contributor.author | Reynolds, Regina H. | |
| dc.contributor.author | Chen, Zhongbo | |
| dc.contributor.author | Fairbrother-Browne, Aine | |
| dc.contributor.author | Gil Martínez, Ana Luisa | |
| dc.contributor.author | Botía Blaya, Juan Antonio | |
| dc.contributor.author | Collado-Torres, Leonardo | |
| dc.contributor.author | Ryten, Mina | |
| dc.contributor.department | Ingeniería de la Información y las Comunicaciones | |
| dc.contributor.other | Facultades de la UMU::Facultad de Informática | |
| dc.date.accessioned | 2026-03-02T11:11:09Z | |
| dc.date.available | 2026-03-02T11:11:09Z | |
| dc.date.copyright | © The Author(s) 2022 | |
| dc.date.issued | 2022-11-18 | |
| dc.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. | |
| dc.format | application/pdf | |
| dc.identifier.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. | |
| dc.identifier.doi | https://doi.org/10.1093/nar/gkac1056 | |
| dc.identifier.eissn | 1362-4962 | |
| dc.identifier.issn | 0305-1048 | |
| dc.identifier.uri | http://hdl.handle.net/10201/217041 | |
| dc.language | eng | |
| dc.publisher | Oxford University Press | |
| dc.relation | El trabajo fue financiado parcialmente mediante la concesión de AWS Cloud Credit for Research (Amazon Web Services) para el procesamiento de datos en la nube. Asimismo, los distintos autores contaron con financiación competitiva internacional, incluyendo una Tenure Track Clinician Scientist Fellowship [MR/N008324/1], una Postdoctoral Fellowship Program in Alzheimer’s Disease Research (BrightFocus Foundation) [A2021009F], una Biotechnology and Biological Sciences Research Council (BBSRC, UK) London Interdisciplinary Doctoral Fellowship, una Clinical Research Fellowship de la Leonard Wolfson Foundation, y financiación del National Institutes of Health (NIH, R01MH123567). | |
| dc.relation.publisherversion | https://academic.oup.com/nar/article/51/D1/D167/6833238#389814915 | |
| dc.rights | Attribution 4.0 International | * |
| dc.rights.accessRights | info:eu-repo/semantics/openAccess | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
| dc.subject.ods | No relacionado con ningún objetivo de desarrollo sostenible | |
| dc.title | IntroVerse: a comprehensive database of introns across human tissues | |
| dc.type | info:eu-repo/semantics/article | |
| dc.type.version | info:eu-repo/semantics/publishedVersion | |
| dspace.entity.type | Publication | es |
| relation.isAuthorOfPublication | 848746a7-05ac-4d08-82cb-e6a80680c24f | |
| relation.isAuthorOfPublication | ee187cf4-aebe-4d10-bfe0-09dedbc8daaf | |
| relation.isAuthorOfPublication.latestForDiscovery | 848746a7-05ac-4d08-82cb-e6a80680c24f |
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