MAJIQ and Voila are two software packages that together detect, quantify, and visualize local splicing variations (LSV) from RNA-Seq data.
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.
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Docket #: 16-7706