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Fig. 1 | Genome Medicine

Fig. 1

From: Sequence dependencies and mutation rates of localized mutational processes in cancer

Fig. 1

Mutation data and differential mutability of 11-mers. a The mutation rate of non-coding mutations (dots and boxplot) and the number of cancer genomes (bar chart) grouped and colored by cancer type. Figure 1a provides the color legend for cancer types for all figures. b Illustration of singleton and hotspot single nucleotide variants (SNVs). Strand symmetry is assumed in the analysis and mutated base pairs are represented by their reference pyrimidines (orange). Mutations are annotated with the ± 5 bp nucleotide context on the strand of the mutated pyrimidine and represented as 11-mers (framed) in the downstream analysis. c The distribution of 11-mer occurrences in the reference genome (x-axis) versus pan-cancer mutation count in 11-mers (y-axis) portrayed in a density cloud (n = 2,097,090). Diagonal lines represent mutation rates. Marginal plots show the distribution of 11-mer occurrences (top) and mutation count (right). d K-mer summary statistics given different sequence lengths (k). e The distribution of 11-mer mutation rates. Each 11-mer contributes a count on the y-axis. f The distribution of 11-mer mutation rates as a function of their genomic span. Each 11-mer contributes with its genomic occurrences to the genomic span on the y-axis. The secondary y-axis shows the fraction of the total genomic span (100%; 2,684,570,106 bp)

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