Fig. 1: Ultradeep DNA sequencing of normal urothelium targeting driver genes shows thousands of mutations.
From: Sex and smoking bias in the selection of somatic mutations in human bladder
a, Schematic representation of sampling and duplex DNA sequencing of polyclonal epithelial brushes from normal bladders. b, Number of SNVs detected in a panel of selected genes in the normal bladder in this study and comparison with the number of mutations detected in 892 tumours from bladder cancer genomics studies, obtained from intOGen24. c, Number and density of somatic mutations (SNVs, MNVs and indels up to 100 base pairs) identified in 79 samples of normal urothelium obtained from 45 donors. Bladder location (dome or trigone), age, sex and smoking history of donors are shown below the bar plots. d, Trinucleotide substitution profiles of the mutational signatures identified across this cohort of normal urothelium samples through de novo extraction. e, Top, scatter plot representing the relationship between the activity (number of mutations contributed) of SBS-ageing in samples and the age of donors; effect size, regression line and P value of a univariate mixed-effects linear model. Bottom, box plot representing the activity of SBS-chemo in donors exposed or not exposed to chemo/radiotherapy; effect size and P value of a univariate mixed-effects linear model. The boxplots show the quartiles with whiskers extending to the highest and lowest data points within 1.5 times the interquartile range; N = 79 samples for all plots in the panel. Mb, megabase. BioRender was used to create panel a (https://BioRender.com/fgnnet9).
