SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data.
Bioinformatics
; 36(5): 1634-1636, 2020 03 01.
Article
em En
| MEDLINE
| ID: mdl-31617569
SUMMARY: Alternative splicing is an important biological process widely analyzed in molecular diagnostic settings. Indeed, a variant can be pathogenic by splicing alteration and a suspected pathogenic variant (e.g. truncating variant) can be rescued by splicing. In this context, detecting and quantifying alternative splicing is challenging. We developed SpliceLauncher, a fast and easy to use open source tool that aims at detecting, annotating and quantifying alternative splice junctions at high resolution. AVAILABILITY AND IMPLEMENTATION: SpliceLauncher is available at https://github.com/raphaelleman/SpliceLauncher. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Software
/
Splicing de RNA
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article