Gene fusion meta-calling with MetaFusion

The Toronto Node of C3G has developed MetaFusion, a flexible meta-calling tool that amalgamates outputs from any number of fusion callers. Designed to overcome inconsistencies among frequently used fusion callers, MetaFusion is among the first ensemble fusion calling tools currently available. Individual results from any fusion detection tools of the user’s choice are converted into Common Fusion Format (CFF), a novel file type for the standardization of fusion calls. These results are then annotated, merged, filtered, and ranked to provide a final output of high confidence fusion candidates. In a study recently published in the journal Bioinformatics, we have shown that MetaFusion consistently outperforms individual fusion callers on both simulated and real cancer datasets, showing that such an ensemble approach improves fusion calling results. MetaFusion is developed using the GenPipes platform.

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Published: January  28, 2022