Fusion genes are both useful cancer biomarkers and important drug targets. Finding relevant fusion genes is challenging due to genomic instability resulting in a high number of passenger events. To reveal and prioritize relevant gene fusion events University of Helsinki researchers have developed FUNGI (FUsionN Gene Identification toolset) that uses an ensemble of fusion detection algorithms with prioritization and visualization modules.
The researchers applied FUNGI to an ovarian cancer dataset of 107 tumor samples from 36 patients. Ten out of 11 detected and prioritized fusion genes were validated. Many of detected fusion genes affect the PI3K-AKT pathway with potential role in treatment resistance.
FUNGI’s modules in a pipeline