Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Zoom Webinar

15 March 2022

Enabling investigation of RNA isoforms & RNA splicing with the IsoMix tool kit

Mike Clark
University of Melbourne

Accurately quantifying gene and isoform expression changes is essential to understanding cell functions, differentiation and disease. Sequencing full-length RNAs using Nanopore long-read sequencing has the potential to overcome many limitations of short-read sequencing methods. However, there are a lack of tools specifically designed for key aspects of Nanopore sequencing or to deal with its unique challenges such as a higher error rate. To address many of these challenges we have developed a number of new tools including: NanoCount for fast, accurate transcript isoform quantification from direct RNA sequencing (DRS); Nanosplicer for accurate correction of splice junctions using the raw nanopore signal squiggles; and the IsoMix visualiser for the effective visualization of known and novel RNA isoforms and their expression across samples. Together these tools are enabling the identification, quantification and analysis of mRNA isoforms from long-read Nanopore sequencing.

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