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MAJIQand VOILA: the next generation for sequencing analyses

Description:

 

MAJIQ and VOILA: the next generation for sequencing analyses

 

Brief Description:

 

MAJIQ and Voila are two software packages that together detect, quantify, and visualize local splicing variations (LSV) from RNA-Seq data.

 

Technology

 

Problem:

 

Over 90% of human genes undergo alternative splicing, resulting in different gene products, potentially conveying different function. This underlying complexity to gene expression is still not well understood and mapping splicing variations remains a substantial challenge.

 

Solution:

 

Dr. Yoseph Barash and his lab have developed new methods that improve the detection and accuracy of mapping gene splicing variations, thus shining a light on previously poorly studied transcripts. These innovative tools, MAJIQ and VOILA, have the potential to identify variations associated with a multitude of processes ranging from gene function to disease.

 

 

 

•       MAJIQ Builder: Uses RNA-Seq (BAM files) and a transcriptome annotation file (GFF3) to define splice graphs and known/novel Local Splice Variations (LSV).

•       MAJIQ Quantifier: Quantifies relative abundance (PSI) of LSVs and changes in relative LSV abundance (delta PSI) between conditions w/wo replicates.

•       Voila: A visualization package that combines the output of MAJIQ Builder and MAJIQ Quantifier using interactive D3 components and HTML5. Voila creates interactive summary files with gene splice graphs, LSVs, and their quantification.

 

Stage of Development:

 

•       Ready to use

 

Intellectual Property:

 

Copyright

 

Reference Media:

 

Vaquero-Garcia et al. eLife 2016;5:e11752

Sotillo et al. Cancer Discovery, 2015, 5(12)-1282

Norton et al. Bioinformatics, 2018, 34(9)-1488

 

Desired Partnerships:

 

- One click license

 

  

Docket #:16-7706

 

 


Patent Information:
For Information, Contact:
Viviane Martin
Director, PSOM Licensing Group
University of Pennsylvania
215-746-4275
martinv@upenn.edu
Inventors:
Yoseph Barash
Keywords: