Extended Data Fig. 4: Mutational signature for non-mosaic and mosaic dSNVs.
From: Autism risk in offspring can be assessed through quantification of male sperm mosaicism
a, Mutational signatures (6 categories) for non-mosaic and mosaic dSNVs, compared to the overall gnomAD signature and a permuted subset (n = 1,000 permutations for n = 889 (non-mosaic) and n = 23 (mosaic) dSNVs; shown is the 95% band). Asterisks indicate observed signatures that lie outside the 95% band of the permuted variants.. Non-mosaic variants are largely reminiscent of the gnomAD signature (with the exception of a significant depletion of T > G). Mosaic variants exhibit some differences, but none reach significance due to the low number of available mutations. b, Mutational signatures (96 categories; trinucleotide environment for non-mosaic and mosaic dSNVs. c, Detailed view of the 96 mutational categories for non-mosaic and mosaic dSNVs, compared to the overall gnomAD signature and a permuted subset (n = 1,000 permutations for n = 889 (non-mosaic) and n = 23 (mosaic) dSNVs; shown is the 95% band). Dots indicate the observed mutational signature (black: within 95% band; red: outside the 95% band).
