deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data
a) Validation evidence using a FISH come together assay, with fusion probes circled in white. b) FISH probe selection. c) FRYL exonic coverage showing fewer reads aligning after the fusion boundary. FRYL exons in blue with narrower boxes denoting untranslated sequence. d) SH2D1A exonic coverage showing significant coverage after the fusion boundary. SH2D1A exons in green with narrower boxes denoting untranslated sequence. e, FRYL-SH2D1A exons in blue or green depending on their origin, with the whole transcript predicted as untranslated. f) Positions of spanning reads supporting the fusion. g, Split alignments supporting the fusion prediction. h) Chromatogram of a sequenced PCR product supporting the fusion.