Intron-centric estimation of alternative splicing from RNA-seq data

MOTIVATION: Novel technologies brought in unprecedented amounts of high-throughput sequencing data along with great challenges in their analysis and interpretation. The percent-spliced-in (PSI, ) metric estimates the incidence of single-exon-skipping events and can be computed directly by counting r...

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Detalhes bibliográficos
Autores: Pervouchine, Dmitri D., Knowles, David G., Guigó Serra, Roderic
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/22631
Acesso em linha:http://hdl.handle.net/10230/22631
http://dx.doi.org/10.1093/bioinformatics/bts678
Access Level:acceso abierto
Palavra-chave:Empalmament (Genètica)
Introns
RNA
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repository_id_str
spelling Intron-centric estimation of alternative splicing from RNA-seq dataPervouchine, Dmitri D.Knowles, David G.Guigó Serra, RodericEmpalmament (Genètica)IntronsRNAMOTIVATION: Novel technologies brought in unprecedented amounts of high-throughput sequencing data along with great challenges in their analysis and interpretation. The percent-spliced-in (PSI, ) metric estimates the incidence of single-exon-skipping events and can be computed directly by counting reads that align to known or predicted splice junctions. However, the majority of human splicing events are more complex than single-exon skipping. RESULTS: In this short report, we present a framework that generalizes the metric to arbitrary classes of splicing events. We change the view from exon centric to intron centric and split the value of into two indices, and , measuring the rate of splicing at the 5' and 3' end of the intron, respectively. The advantage of having two separate indices is that they deconvolute two distinct elementary acts of the splicing reaction. The completeness of splicing index is decomposed in a similar way. This framework is implemented as bam2ssj, a BAM-file-processing pipeline for strand-specific counting of reads that align to splice junctions or overlap with splice sites. It can be used as a consistent protocol for quantifying splice junctions from RNA-seq data because no such standard procedure currently exists. AVAILABILITY: The C code of bam2ssj is open source and is available at https://github.com/pervouchine/bam2ssj. CONTACT: dp@crg.eu.This work has been supported by grants BIO2011-26205 and CSD2007-00050 Consolider, Ministerio de Educación y Ciencia (Spain)Oxford University Press201420142013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/22631http://dx.doi.org/10.1093/bioinformatics/bts678reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésBioinformatics. 2013;29(2):273-4info:eu-repo/grantAgreement/ES/3PN/BIO2011-26205info:eu-repo/grantAgreement/ES/2PN/CSD2007-00050© 2012 Dmitri D. Pervouchine et al. This is an Open Access article distributed under the terms of a Creative Commons Attribution Licensehttp://creativecommons.org/licenses/by/3.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/226312026-05-29T05:05:01Z
dc.title.none.fl_str_mv Intron-centric estimation of alternative splicing from RNA-seq data
title Intron-centric estimation of alternative splicing from RNA-seq data
spellingShingle Intron-centric estimation of alternative splicing from RNA-seq data
Pervouchine, Dmitri D.
Empalmament (Genètica)
Introns
RNA
title_short Intron-centric estimation of alternative splicing from RNA-seq data
title_full Intron-centric estimation of alternative splicing from RNA-seq data
title_fullStr Intron-centric estimation of alternative splicing from RNA-seq data
title_full_unstemmed Intron-centric estimation of alternative splicing from RNA-seq data
title_sort Intron-centric estimation of alternative splicing from RNA-seq data
dc.creator.none.fl_str_mv Pervouchine, Dmitri D.
Knowles, David G.
Guigó Serra, Roderic
author Pervouchine, Dmitri D.
author_facet Pervouchine, Dmitri D.
Knowles, David G.
Guigó Serra, Roderic
author_role author
author2 Knowles, David G.
Guigó Serra, Roderic
author2_role author
author
dc.subject.none.fl_str_mv Empalmament (Genètica)
Introns
RNA
topic Empalmament (Genètica)
Introns
RNA
description MOTIVATION: Novel technologies brought in unprecedented amounts of high-throughput sequencing data along with great challenges in their analysis and interpretation. The percent-spliced-in (PSI, ) metric estimates the incidence of single-exon-skipping events and can be computed directly by counting reads that align to known or predicted splice junctions. However, the majority of human splicing events are more complex than single-exon skipping. RESULTS: In this short report, we present a framework that generalizes the metric to arbitrary classes of splicing events. We change the view from exon centric to intron centric and split the value of into two indices, and , measuring the rate of splicing at the 5' and 3' end of the intron, respectively. The advantage of having two separate indices is that they deconvolute two distinct elementary acts of the splicing reaction. The completeness of splicing index is decomposed in a similar way. This framework is implemented as bam2ssj, a BAM-file-processing pipeline for strand-specific counting of reads that align to splice junctions or overlap with splice sites. It can be used as a consistent protocol for quantifying splice junctions from RNA-seq data because no such standard procedure currently exists. AVAILABILITY: The C code of bam2ssj is open source and is available at https://github.com/pervouchine/bam2ssj. CONTACT: dp@crg.eu.
publishDate 2013
dc.date.none.fl_str_mv 2013
2014
2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/22631
http://dx.doi.org/10.1093/bioinformatics/bts678
url http://hdl.handle.net/10230/22631
http://dx.doi.org/10.1093/bioinformatics/bts678
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Bioinformatics. 2013;29(2):273-4
info:eu-repo/grantAgreement/ES/3PN/BIO2011-26205
info:eu-repo/grantAgreement/ES/2PN/CSD2007-00050
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/3.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/3.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
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