Novel fusion detection using expression imbalance

There are two methods of novel fusion detection in Ion Reporter™ Software. The method that is used depends on which analysis workflow is applied when the analysis is launched.

One method is the exon tiling imbalance method. Exon tiling is a partner agnostic fusion detection method that enables the discovery of novel fusions and predicts the fusion breakpoint within a range of exons of key driver genes. With this method, the software identifies novel fusions in assays that include exon tiling amplicons. For more information, see Fusion detection methods and View RNA Exon Tile Fusion Imbalance plots.

In the other method, the software generates a 3'/5' imbalance value that you can evaluate to detect novel fusions. This method only applies to panels that include 3' and 5' primers. The 3'/5' imbalance values are generated with analyses launched with the Oncomine™ Focus Assay, Oncomine™ Comprehensive Assay v1, analysis workflows applied to the Ion AmpliSeq™ RNA Fusion Lung Cancer Research Panel, and some custom panels from AmpliSeq.com that include 3'/5' amplicons. For more information, see 3'/5' Imbalance scores for assay calls.