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Fig. 4 | Genome Biology

Fig. 4

From: JAFFAL: detecting fusion genes with long-read transcriptome sequencing

Fig. 4

Detection of fusions in single-cell ONT sequencing of five cell lines. A t-SNE plot generated from short-read gene expression. Color indicates the cell line that a fusion detection is known to be in from CCLE. Gray indicates a cell with no detected CCLE fusion. B For each of the 15 fusions detected by JAFFAL, the number of cells identified in each of the five clusters is shown. Fusion labels are colored according to the CCLE cell line they were previously identified in. Black indicates a novel fusion. C JAFFAL identified BMPR2-TYW5 and TYW5-ALS2CR11 in the H838 cell line as belonging to the same transcript and forming the three-gene fusion BMPR2-TYW5-ALS2CR11 identified in 15 reads (two different isoforms). Expressed exons in the fusion transcript are shown in blue, red, and green, with color indicating the gene of origin. Red bars show the position of translocations seen in short-read whole-genome sequencing of H838 in CCLE. The breakpoint within ALS2CR11 falls within its third final exon, and this exon appears to be spliced out. The six isoforms we identified for BMPR2-TYW5-ALS2CR11 and the number of long reads supporting each are also shown. The location of PCR forward and reverse primers which validated the translocation between BMPR2 and ALS2CR11 are shown in black (bottom)

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