Fig. 3: Focal amplifications and chromothripsis in GCA patients.

a Summary of chromothripsis events across the whole genome in our GCA cohort. HC high confidence chromothripsis, LC low confidence chromothripsis. b ERBB2 focal amplifications in the event of chromothripsis from one GCA patient. The different connection lines on the top represent the potential different formats of chromothripsis events at the ERBB2 gene. CN copy number. c Summary of overlapping frequency between focal amplifications and chromothripsis in the GCA cohort. HC high confidence chromothripsis, LC low confidence chromothripsis. d The correlation between total length of focal amplifications and the frequency of chromothripsis in GCA patients, where each dot represents one sample. e Representative images of γH2AX immunohistochemistry (IHC) staining in our GCA cohort. f Presence and absence of chromothripsis in γH2AX-positive and γH2AX-negative groups of GCA patients. The numbers on the bars are patient numbers. Two-sided Fisher exact test are performed. g Comparisons of the total length of chromothripsis in γH2AX-positive and γH2AX-negative GCA patients, where each dot represents one patient, and the length of chromothripsis is the total length of all chromosomes in each sample. The p-value was calculated using the two-sided Wilcoxon signed-rank test. The box plots show the minima (bottom dot), the maxima (top dot), the median (middle line) and the first and third quartiles (boxes), whereas the whiskers show 1.5× the interquartile range IQR above and below the box. Source data are provided as a Source Data file for Fig. 3a–d, f, g.