Toblerone

Toblerone is a method for detecting exon deltions in RNA-seq data. You’ll notice in the logo that an e(xon) is missing!

It is currently in development, extending the methods described here for acute lymphoblastic leukemia (ALL) focal deletions in IKAROS family zinc finger 1 (IKZF1) : https://github.com/Oshlack/ALL-RNAseq-utility-paper. Toblerone looks for internal exon (not first or last) deletions.

Toblerone consists of two key concepts: a specialised transcriptome and a modified pseudoalignment algorithm

This desktop app is available for single sample analysis.

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The latest binary release is available below:

Compile