Extended Data Fig. 5: Characterisation of mutational signature SBS10c. | Nature Genetics

Extended Data Fig. 5: Characterisation of mutational signature SBS10c.

From: Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

Extended Data Fig. 5: Characterisation of mutational signature SBS10c.

(a) SBS mutational profiles for representative samples (PD44581b_lo0001, PD44585b_lo0009 and PD44582b_lo0001). (b) Histograms of Variant Allele Fraction (VAF) for SBS mutations in each sample. (c) JBrowse images showing SBS10c mutations validated across multiple samples. Matched normal samples are displayed at the bottom of each image (d) Mutational profile showing replication strand bias of SBS10c mutations from a representative sample. Coloured bars indicate the mutation count on the leading strand and light grey bars indicate the lagging strand. (e) Barplot of SBS mutations assigned to SBS10c on the transcribed (T) and un-transcribed (U) strands, p-values were calculated for each mutation type using a two-sided Poisson test, statistically significant p-values are displayed.

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