Fig. 2: Computing positive selection in the normal urothelium.
From: Sex and smoking bias in the selection of somatic mutations in human bladder
a, Distribution of truncating, missense and synonymous somatic mutations along the coding regions of RBM10 and TP53. Each needle represents the number of samples with mutations with one of the three consequences occurring on an amino acid residue. b, Magnitude of positive selection on truncating and missense mutations in RBM10 and TP53. Left, magnitude of positive selection indicated as the dN/dS ratio on the basis of the number of observed and expected mutations of each type. Right, percentage of driver mutations (observed in excess of neutrality) among truncating and missense in RBM10 and TP53. The number of observed, expected and estimated driver mutations are indicated for each gene. c, Magnitude of selection on truncating and missense mutations in FGFR3. dN/dS below 1 indicates negative selection. d, Magnitude of positive selection of activating mutations in the TERT promoter. Left, distribution of somatic mutations along the sequence of the TERT promoter colour coded according to whether they are activating (seen in tumours). Right, bar representing the magnitude of positive selection on activating TERT promoter mutations. In dN/dS bar plots (b–d), the shaded segment in each bar represents the number of truncating or missense (or activating in the case of TERT) mutations expected under neutrality. The numbers above the bar detail the value of dN/dS for each type of mutation. Numbers inside bars represent the mutations in excess over the expectation, that is, the drivers. The P values in b–d were calculated using a dN/dS approach (Omega) described in Supplementary Note 6.
