Fig. 1

The EnFusion pipeline identifies true positive fusions. A The EnFusion approach identifies fusions in RNA-Seq data by overlapping results from Arriba, CICERO, FusionCatcher, FusionMap, JAFFA, MapSplice, and STAR-Fusion. It hierarchically prioritizes and filters the fusions utilizing an in-house PostgreSQL database and knowledge-base, prior to producing an output list of predicted fusions. In many cases, detected fusions were orthogonally tested by clinical confirmation in order to return a medically meaningful result. B The EnFusion pipeline was tested on a dilution series of a reference control reagent (SeraCare) to determine sensitivity and limit of detection. We optimized the pipeline using the undiluted reference control reagent, identifying that by requiring ≥3 callers to have overlap for a detected fusion, and by utilizing filtering of known false positive fusion calls and cross-referencing a list of known fusions, all 14 fusions were identified. Colors representing different fusions present in the Seraseq v2 reagent are ordered by their absolute proportions. We then applied the optimized pipeline to the dilution series, showing that the numbers of identified fusions were reduced in serial dilutions, and no fusions were identified in the negative control. All images depicted in the associated figure are the authors’ own and not taken from another source