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MAJIQ-SPEL: Web-Tool to interrogate classical and complex splicing variations from RNA-Seq data

Christopher J. Green, Matthew R. Gazzara, Yoseph Barash
doi: https://doi.org/10.1101/136077
Christopher J. Green
1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA
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Matthew R. Gazzara
1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA
2Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA
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Yoseph Barash
1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA
3Department of Computer and Information Science, School of Engineering, University of Pennsylvania, Philadelphia, PA, 19104, USA
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  • For correspondence: yosephb@upenn.edu
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Abstract

Analysis of RNA sequencing (RNA-Seq) data have highlighted the fact that most genes undergo alternative splicing (AS) and that these patterns are tightly regulated. Many of these events are complex, resulting in numerous possible isoforms that quickly become difficult to visualize, interpret, and experimentally validate. To address these challenges, We developed MAJIQ-SPEL, a web-tool that takes as input local splicing variations (LSVs) quantified from RNA-Seq data and provides users with visualization and quantification of gene isoforms associated with those. Importantly, MAJIQ-SPEL is able to handle both classical (binary) and complex (non-binary) splicing variations. Using a matching primer design algorithm it also suggests users possible primers for experimental validation by RT-PCR and displays those, along with the matching protein domains affected by the LSV, on UCSC Genome Browser for further downstream analysis.

Availability: Program and code will be available at http://majiq.biociphers.org/majiq-spel

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted May 09, 2017.
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MAJIQ-SPEL: Web-Tool to interrogate classical and complex splicing variations from RNA-Seq data
Christopher J. Green, Matthew R. Gazzara, Yoseph Barash
bioRxiv 136077; doi: https://doi.org/10.1101/136077
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MAJIQ-SPEL: Web-Tool to interrogate classical and complex splicing variations from RNA-Seq data
Christopher J. Green, Matthew R. Gazzara, Yoseph Barash
bioRxiv 136077; doi: https://doi.org/10.1101/136077

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