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Fig. 1 | Genome Biology

Fig. 1

From: CICERO: a versatile method for detecting complex and diverse driver fusions using cancer RNA sequencing data

Fig. 1

Examples of complex fusion cases missed by commonly used fusion detection tools. a A 3-segment C11orf95-MAML2 fusion in an ependymoma (SJEPD001509_D). The fusion breakpoints are shown at the top, which introduces a new splice site (reverse complement sequence AG|GT) within intron 1 of MAML2 (red arrow at the top). This resulted in replacing the last 23AA of C11orf95 with a 36 bp in-frame insertion, which was confirmed by Sanger sequencing shown at the bottom. This fusion can be detected by FusionCatcher but not the other three public methods. b IGH-EPOR fusion in a B-ALL (SJBALL020824_D1) which caused the insertion of EPOR gene into the highly repetitive IGH locus. Y-axis shows the coverage of RNA-seq at the two loci with arrows denoting the fusion breakpoints. None of the four public methods can detect this fusion

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