Figure 3.
CN distribution and enrichment of breakends in the genome. (A) Violin plots of CN distribution in the final CNV data set of the TP53 mutated (n = 6) and TP53 wildtype (n = 5) cases. Each dot represents 1 fragment (distinct region on a genome of reference) and its respective CN. (B) Genomic fragments of <20 kb in size of the 4 cases with the highest complexity (total number of CN changes). The cases are ordered by rearrangement complexity. Blue: CN loss (CN < 1.7); red: CN gain (CN > 2.3). (C) Breakend enrichment analysis showed increased observed/expected ratio of breakends in gene promoters, 3’UTRs and introns; the opposite is observed for intergenic and 5’UTR regions. (D-E) Heatmap of the occurrence of BND in chromocataclysm cases (D) and chromothripsis cases without chromocataclysm (E) in the proximity of repetitive elements (repeat subcategories from RepeatMasker). The normalized relative occurrence was calculated for different intervals from the BNDs.

CN distribution and enrichment of breakends in the genome. (A) Violin plots of CN distribution in the final CNV data set of the TP53 mutated (n = 6) and TP53 wildtype (n = 5) cases. Each dot represents 1 fragment (distinct region on a genome of reference) and its respective CN. (B) Genomic fragments of <20 kb in size of the 4 cases with the highest complexity (total number of CN changes). The cases are ordered by rearrangement complexity. Blue: CN loss (CN < 1.7); red: CN gain (CN > 2.3). (C) Breakend enrichment analysis showed increased observed/expected ratio of breakends in gene promoters, 3’UTRs and introns; the opposite is observed for intergenic and 5’UTR regions. (D-E) Heatmap of the occurrence of BND in chromocataclysm cases (D) and chromothripsis cases without chromocataclysm (E) in the proximity of repetitive elements (repeat subcategories from RepeatMasker). The normalized relative occurrence was calculated for different intervals from the BNDs.

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