Extended Data Fig. 2: Mutational spectra and signatures for maternal vs paternal DNMs across 100kGP cohort.
From: Genetic and chemotherapeutic influences on germline hypermutation
(a) Mutational spectra for maternal vs paternal DNMs across 100kGP cohort (48,381 maternal DNMs and 167,558 paternal DNMs). Significant differences (chi-squared test, two sided, Bonferroni corrected threshold of P < 0.05/7) are marked with * (p-values: C > A 4.6310-23,C > G 0.20, C > T 3.2510-80, CpG>TpG 0.75, T > A 0.98, T > C1.6210-5,T > G 6.8110-28). The 95% confidence intervals are shown. (b) Mutational signature decomposition for DNMs in maternally and paternally derived DNMs. Signatures extracted with SigProfiler. Colours correspond to COSMIC signatures.
