Fig. 3: RPS7 isoform characterisation.
From: HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders
A Sashimi plot comparing splicing patterns between proband and controls. Both short-read (SR) and long-read (LR) data are shown. B TPM values of ENST00000645674.2 (RPS7) calculated by Salmon in short read data across 88 samples. Transcripts per million (TPM) value for proband highlighted in red. C Proportion of MANE select transcript (blue) vs intron 6 – retained (orange) transcript across blood libraries. Red arrow points to bar reflecting the proband. D Visualisation of transcripts identified in proband (red), P06 as control (green) and annotated reference (blue).
