Fig. 4

PacBio SMRT sequencing by Iso-Seq resolves RB1 transcript isoform structure and diversity. a SMRT sequencing of tumor-derived RNA aligned to GRCh38 identified a novel RB1-SIAH3 fusion which included putative aligned exon sequence derived from intron 1 of SIAH3 prior to the fusion junction. b Multiple transcript isoforms of an RB1-intergenic fusion. The intergenic sequence aligned to a non-genic region of the genome and resulted in the formation of putative aligned exon sequence supported by flanking splice donor and acceptor sequence. Each putative aligned exon is designated as A-G. The supporting number of circular consensus sequencing (CCS) reads are shown for each isoform