Fig. 4.

(a) and (b) show relative expression values for all relevant isoforms at all time points of extraction for qPCR and ddPCR. Data points from carrier samples and control samples are shown in yellow and grey respectively. In accordance with the literature and our NGS data, BRCA1-Δ22ntex5 is highly overexpressed in carriers in comparison to controls. (c) and (d) show the quantification of sample 1, 2 and 3. Sample 1 contained 33%, 33% and 34% of plasmid containing BRCA1-Δ22ntex5, BRCA1-ex5FL and BRCA1-Δex5 respectively. For samples 2 and 3 this was 57%/28%/15% and 30%/38%/32% respectively. The theoretical relative amount of each transcript in each sample (depicted with white dots in each bar) was calculated based on the volume of plasmid stock that was added, the measured amount of plasmid (ng/μL) in the stock solution and the theoretical molecular weight of each plasmid (based on the plasmid sequence).