scholarly journals Splicing Express: a software suite for alternative splicing analysis using next-generation sequencing data

PeerJ ◽  
2015 ◽  
Vol 3 ◽  
pp. e1419 ◽  
Author(s):  
Jose E. Kroll ◽  
Jihoon Kim ◽  
Lucila Ohno-Machado ◽  
Sandro J. de Souza

Motivation.Alternative splicing events (ASEs) are prevalent in the transcriptome of eukaryotic species and are known to influence many biological phenomena. The identification and quantification of these events are crucial for a better understanding of biological processes. Next-generation DNA sequencing technologies have allowed deep characterization of transcriptomes and made it possible to address these issues. ASEs analysis, however, represents a challenging task especially when many different samples need to be compared. Some popular tools for the analysis of ASEs are known to report thousands of events without annotations and/or graphical representations. A new tool for the identification and visualization of ASEs is here described, which can be used by biologists without a solid bioinformatics background.Results.A software suite namedSplicing Expresswas created to perform ASEs analysis from transcriptome sequencing data derived from next-generation DNA sequencing platforms. Its major goal is to serve the needs of biomedical researchers who do not have bioinformatics skills.Splicing Expressperforms automatic annotation of transcriptome data (GTF files) using gene coordinates available from the UCSC genome browser and allows the analysis of data from all available species. The identification of ASEs is done by a known algorithm previously implemented in another tool namedSplooce. As a final result,Splicing Expresscreates a set of HTML files composed of graphics and tables designed to describe the expression profile of ASEs among all analyzed samples. By using RNA-Seq data from the Illumina Human Body Map and the Rat Body Map, we show thatSplicing Expressis able to perform all tasks in a straightforward way, identifying well-known specific events.Availability and Implementation.Splicing Expressis written in Perl and is suitable to run only in UNIX-like systems. More details can be found at:http://www.bioinformatics-brazil.org/splicingexpress.

2017 ◽  
Author(s):  
Merly Escalona ◽  
Sara Rocha ◽  
David Posada

AbstractMotivationAdvances in sequencing technologies have made it feasible to obtain massive datasets for phylogenomic inference, often consisting of large numbers of loci from multiple species and individuals. The phylogenomic analysis of next-generation sequencing (NGS) data implies a complex computational pipeline where multiple technical and methodological decisions are necessary that can influence the final tree obtained, like those related to coverage, assembly, mapping, variant calling and/or phasing.ResultsTo assess the influence of these variables we introduce NGSphy, an open-source tool for the simulation of Illumina reads/read counts obtained from haploid/diploid individual genomes with thousands of independent gene families evolving under a common species tree. In order to resemble real NGS experiments, NGSphy includes multiple options to model sequencing coverage (depth) heterogeneity across species, individuals and loci, including off-target or uncaptured loci. For comprehensive simulations covering multiple evolutionary scenarios, parameter values for the different replicates can be sampled from user-defined statistical distributions.AvailabilitySource code, full documentation and tutorials including a quick start guide are available at http://github.com/merlyescalona/[email protected]. [email protected]


PLoS ONE ◽  
2015 ◽  
Vol 10 (10) ◽  
pp. e0140487 ◽  
Author(s):  
Konrad Schreiber ◽  
Gergely Csaba ◽  
Martin Haslbeck ◽  
Ralf Zimmer

2010 ◽  
Vol 20 (9) ◽  
pp. 1297-1303 ◽  
Author(s):  
A. McKenna ◽  
M. Hanna ◽  
E. Banks ◽  
A. Sivachenko ◽  
K. Cibulskis ◽  
...  

Thorax ◽  
2014 ◽  
Vol 69 (Suppl 2) ◽  
pp. A83-A83
Author(s):  
C. Shovlin ◽  
F. Govani ◽  
I. Mollet ◽  
E. Thomas ◽  
M. Jones ◽  
...  

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