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Fig. 7 | BMC Genomics

Fig. 7

From: Single genome retrieval of context-dependent variability in mutation rates for human germline

Fig. 7

Sequence-context dependence of the \(r_{i,N}^{core}\) basal substitution propensity (BSP) constants. ah Sequence logos [55] are shown for all the unique 7-mer sequences grouped by the central base type (columns) and the category of the BSP range the sequences fall in (rows, BSP range is shown in byr −1 rate constants). The y-axes in the individual sequence logos show the information content in bits. The x-axes outline the neighbouring base positions relative to the central base. For each sequence, the BSP of the central base (i) depicts the sum of the core rate constants for the substitutions to the three other (non-i) bases, \(r_{i,N}^{core} = r_{i,b2}^{core} + r_{i,b3}^{core} + r_{i,b4}^{core}\). As can be seen from the plots, the bases A and T are highly mutable when the neighbouring positions are enriched in the same, A and T, bases (compare the logos a and d with e and h). The adjacent enrichment in A increases the BSP of C (b), and decreases the BSP of G (g) bases. Conversely, the adjacent enrichment in T increases the BSP of G (c) and decreases that of C (f) bases. Note, that our data are for \(r_{i,N}^{core}\), thus independent from the methylation-driven increased mutation rates in CpG dyads [1214]

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