Fig. 4: Detection of full abnormal transcripts due to TCOF1 SVA insertion in F01 fibroblasts.
From: HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders
A Z-score plot showing the relative expression level of the exons of TCOF1 estimated from SR RNA-seq. B Sashimi plot showing level of expression of exons and splicing junctions observed in SR and LR RNA-seq data from F01 and an unrelated control. CHX+ and CHX- have been summed up. C Phased FLNC data from F01. The SVA-carrying allele shows preferential expression of the shorter TCOF1 isoform compared to the reference allele. Inset show exonized SVA insertion in the longer transcripts. D Schematic of genomic coordinates and transcripts in the locus, and of the SVA insertion.
