Fig. 5: Differential genome-wide fragmentation.
From: Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns
A Genome-wide fragment ratio profiles (90-150 bp/151-220 bp) of healthy TP53-wildtype controls and TP53m-carriers separated by cancer status. TP53m-carriers show ~1.4x increased variability compared to TP53-wildtype controls. B Heatmap showing unsupervised clustering of genome-wide fragment ratios. Samples were separated by cancer status. Patient type, cancer history, cancer status, and germline mutation type are shown on the right. Pearson’s correlation scores of TP53m-carriers compared to the healthy TP53-wildtype median shown on the right. The healthy TP53-wildtype median fragmentation profile, differentially fragmented regions ( > 3 standard deviations away from healthy TP53-wildtype median), percent of the LFS cohort greater than 3 standard deviations away from the healthy TP53-wildtype median, and the LFS cohort median are displayed on top. C Heatmap showing the Pearson’s correlation scores comparing the median fragment ratio profile between each functional TP53 mutation class, LFS cohort, and healthy TP53-wildtype controls. Each TP53 mutation class shows a low correlation to the healthy control, moderate correlation to other TP53 mutation classes, and highest correlation to the LFS cohort median. D Barcharts showing the proportion of bins with significantly increased or decreased fragment ratios ( > 3 standard deviations away from healthy TP53-wildtype controls) in each functional TP53 mutation class compared to the healthy TP53-wildtype control median. Source data are provided as a Source Data file.
