QURNAS: Quantitative enrichment of aberrant splicing events in targeted RNA-seq data of pathogenic neurofibromatosis type 1 (NF1) RNA-splicing

DOI

QURNAS is a tool to quantify RNA splicing events from RNA-seq data. It will generate a file with all splicing events detected in the samples analysed which includes the number of reads per event for each sample. Additionally, it provides an enrichment score per sample and per event, as well as its statistical significance. This greatly facilitates the identification of aberrant RNA splicing events. A description of the event in HGVS nomenclature is also provided.

Identifier
DOI https://doi.org/10.34894/BIU9RK
Metadata Access https://dataverse.nl/oai?verb=GetRecord&metadataPrefix=oai_datacite&identifier=doi:10.34894/BIU9RK
Provenance
Creator Szklarczyk, Radek; Brandão, Rita D. (ORCID: orcid.org/0000-0002-7597-5764); Mensaert, Klaas; Tserpelis, Demis; Derks, Kasper; de Meyer, Tim; Smeets, Hubert J.; Blok, Marinus J.
Publisher DataverseNL
Contributor Szklarczyk, Radek
Publication Year 2021
Rights <a rel="license" href="http://creativecommons.org/licenses/by-nc/4.0/"><img alt="Creative Commons-Licentie" style="border-width:0" src="https://i.creativecommons.org/l/by-nc/4.0/88x31.png" /></a><br />Dit werk valt onder een <a rel="license" href="http://creativecommons.org/licenses/by-nc/4.0/">Creative Commons Naamsvermelding-NietCommercieel 4.0 Internationaal-licentie</a>.; info:eu-repo/semantics/openAccess
OpenAccess true
Contact Szklarczyk, Radek (Maastricht University)
Representation
Resource Type Dataset
Format text/plain; text/x-python-script; text/tab-separated-values
Size 2347; 55509; 15332268
Version 2.2
Discipline Life Sciences; Medicine