Fig. 2

Clinically relevant fusions identified by the EnFusion approach in a pediatric cancer and hematologic disease cohort. A The EnFusion approach, with automated filtering, identifies significantly fewer fusions compared to individual callers. The number of fusions is plotted as log₁₀(x + 1) to account for 0 fusions identified in some cases. Callers are sorted by the lowest median number of fusions identified to the highest. B 67 Clinically relevant fusions were identified, represented as a bar graph with decreasing fusions per individual algorithm, highlighting the sensitivity of the ensemble approach compared to individual algorithms. No individual algorithm was able to identify all 67 fusions. C Of the 67 clinically relevant fusions identified, 30 were interchromosomal chimeric (blue), 29 were intrachromosomal chimeric (orange), 3 were loss of function (green), and 5 were promoter swapping (yellow) fusions. D Of the 67 clinically relevant fusions identified, 7 are novel events (red asterisk), while the remaining 60 fusion partners had been described previously in the literature. E A stacked bar graph represents the individual fusion callers that contributed to each clinically relevant fusion. EnFusion 3 refers to the EnFusion approach with ≥3 callers and EnFusion 2 refers to the EnFusion approach with ≥2 callers. All images depicted in the associated figure are the authors’ own and not taken from another source