Extended Data Fig. 5: Structural variant burden. | Nature

Extended Data Fig. 5: Structural variant burden.

From: Pan-cancer whole-genome comparison of primary and metastatic solid tumours

Extended Data Fig. 5

a) Top rectangles represent the four genomic instability features defined in Fig. 1e. A red background represents significant enrichment in the metastatic cohort (two-sided Mann-Whitney adjusted p-value <0.01). S-plots, cumulative distribution function plot (samples ranked independently for each SV type) of tumor mutation burden for each cancer type for (from top to the bottom) the aggregated structural variant (SV) burden, small deletions (<10kb), large deletions (>=10kb), small duplications (<10kb), large duplications (>=10kb), complex events (<20 breakpoints), complex events (>=20 breakpoints) and LINEs insertions. Horizontal lines represent median values. Backgrounds are coloured according to the relative enrichment, defined as: log10(median SV type burden in metastatic tumors + 1) − log10(median SV type burden in primary tumors + 1). Fold change labels and coloured backgrounds are displayed when Mann-Whitney comparison renders a significant q-value < 0.05. Fold change labels are displayed with ‘>’ when the SV burden for primary tumors is 0 (see Methods for more details). For each cancer type, bottom bar plots represent the relative fraction of each SV type in the metastatic (left) and primary (right) datasets. b) SV length frequency distribution of deletions (left panel) and duplications (middle panel). Right panel shows the frequency distribution of the number of linked breakpoints for complex SVs. Dashed vertical lines represent the chosen threshold to separate between short and large deletions, duplications and complex SVs, respectively.

Back to article page