Fig. 4

Site co-occurrence plots and gene mutation frequency variability. a Total number of sites (diagonal), site co-occurrence among mutation callers (below diagonal) and corresponding similarity between callers (Jaccard index, above diagonal). b Total number of mutated genes (diagonal), mutation co-occurrence across subjects (below diagonal) and corresponding coefficients of variations (CVs) across pipelines (above diagonal). Asterisks indicate CVs greater than 1; grey colour indicates no mutation co-occurrence between two subjects. c Standard deviation of gene mutation frequency across pipelines; red: genes associated with BC [19,20,21]. d Number of subjects with mutations detected by each tool. a-b Results obtained on BC mutations from 50 subjects (Additional file 1); c-d results obtained on all 975 subjects (Additional file 1)