Extended Data Fig. 4: Chromothripsis-associated signatures. | Nature

Extended Data Fig. 4: Chromothripsis-associated signatures.

From: Signatures of copy number alterations in human cancer

Extended Data Fig. 4

a) Associations between copy number signature attribution (y-axis) and rearrangement phenomena (x-axis) described in Hadi et al. (2020). Effect size (log2 odds ratio, colour), and significance level (-log2 Q-value, size) from a Fisher’s exact test are displayed. b) Correlation between copy number signature attributed segments and chromothriptic regions at a genomic level. X-axis=effect size (log odds ratio), y-axis=significance (-log2 Q-value). A half dot indicates an infinite value (Q = 0, or OR=Inf). c) Same as for (a), but correlated against amplified chromothripsis. CN7-8 OR= OR = 2.69 and 10.08 respectively, Q < 0.05. d) Same as for (a), but correlated against distinct chromothripsis types. e) Distributions of the number of segments (left) and segment sizes (right) on chromothriptic chromosomes identified by PCAWG. Orange lines indicate empirical distributions. Blue dashed lines indicate simulation distributions. f) Attributions (blue) of the 21 pan-cancer signatures (x-axis) in 5 simulation designs each of 100 samples (y-axis). Chromo.=chromothripsis. WGD=whole genome doubling. Amp=single gain of the derivative chromothriptic chromosome.

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