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Fig. 4 | Genome Medicine

Fig. 4

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

Fig. 4

Hotspot overview and identification of enriched localized mutational processes. a Examples of pan-cancer recurrent and singleton SNVs in a 94-bp window on chromosome 16. SNVs are colored by cancer type. b Hotspot recurrence counts (x-axis) and frequency in counts (y-axis; top) with the proportion (bottom) of positions in protein-coding (red) or non-protein-coding regions (black). c All SNVs (n = 41,318,716) grouped by their pan-cancer recurrence count (1–7 +). Heatmap showing the relative contribution (color) of all mutational signatures (x-axis) to hotspot mutations of increasing recurrence (y-axis). Colors represent log2-fold change in mean signature posterior probability relative to singleton SNVs (recurrence 1). Several mutational signatures are enriched (red) in highly recurrent hotspots (recurrence 5, 6, 7 +). d Mutation rates of all mutated 11-mers (1 + ; 98.8% [2653 Mb] of the genome) and 11-mers with a hotspot in at least one of its instances for all hotspots (2 + ; 35.5% [954 Mb] of the genome), and highly recurrent hotspots (5 + ; 0.9% [23 Mb] of the genome)

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