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. 2020 Dec 3;11:6195. doi: 10.1038/s41467-020-19971-8

Fig. 2. Putative deleterious germline variants are common in urothelial cancer patients.

Fig. 2

a pDGVs in the WCM-UC cohort. The frequencies of pDGVs in the same gene in the TCGA-BLCA cohort are displayed as horizontal bar plots (right). b The odds ratio of pDGVs to rare synonymous variants in a gene set of 158 genes comparing WCM-UC and TCGA-BLCA cancer cohorts to ethnicity-matched SPARK non-cancer cohorts using a two-sided Fisher’s exact test. Each circle corresponds to one of four comparisons: WCM-EUR vs. SPARK-EUR, WCM-AJ vs. SPARK-AJ, TCGA-EUR vs. SPARK-EUR, or TCGA-AJ vs. SPARK-AJ. Each circle’s diameter indicates the number of individuals in either the WCM-UC (blue) or TCGA-BLCA (red) cohorts. The horizontal dotted line indicates the statistical significance threshold above which the p-values are less than 0.05. The vertical dotted line represents an odds ratio of 1. Data points on the right have a higher ratio of pDGVs to rare synonymous variants in the WCM-UC and TCGA-BLCA cohorts. c The odds ratio of pDGVs to rare synonymous variants in a gene set of 158 genes comparing TCGA pan-cancer cohorts (n = 7,839) to SPARK non-cancer cohort (n = 11,035) with a two-sided Fisher’s exact test. Each circle indicates the odds ratio (OR), and the error bars indicate the 95% confidence intervals (CI). The vertical dotted line represents an odds ratio of 1. Values to the right of this line represent a higher odds ratio of pDGVs to rare synonymous variants in respective cancer cohorts compared to the SPARK non-cancer cohort. Source data are provided as a Source Data file.