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Analysis Methods/Fusion Calling

Fusion Calling

Two types of gene fusions are called by the workflow, fusions and putative fusions. Fusions are known fusions that are specifically targeted by a panel. Only one of the two fusion partner genes, called the driver gene, is targeted for a putative fusion. Two targets are placed on the 5’ and 3’ end of the driver gene. An imbalanced expression of the two targets indicates the presence of fusions with the driver gene.

Each fusion type produces one output file.

NOTE

Fusion calling is only performed in runs that use an encrypted manifest file. The fusion output files only contain fusion calls when using an encrypted manifest.