Extended Data Fig. 10: Mosaic variants do not exhibit clustering but differ in their mutational signatures depending on their origin.
From: Autism risk in offspring can be assessed through quantification of male sperm mosaicism
a, Plot of the chromosomal location for each of the mosaic variants and their allelic fraction found in sperm from F01-08. Circles, triangles, and squares denote variants found to be mosaic by the dSNV approach, by the unbiased approach, or by both, respectively. b, Permutation simulations (n = 10,000 simulations of n = 23 mosaic dSNVs, n = 62 SDO mosaics, n = 123 SDO + BSS mosaics, n = 568 BDO mosaics, and n = 629 BDO + BSS mosaics) of variant locations to obtain mean and SD of broken stick fragment lengths. Vertical lines mark the observed value from mosaic dSNVs and mosaic variants from the indicated classes. These simulations illustrate that the observed distributions of variants along the chromosomes (as visualized in a for those that were mosaic in sperm) were within expectation. c, Detailed view of the 96 mutational categories for SDO, shared, and BDO mosaic variants,, compared to the overall gnomAD signature and a permuted subset (n = 1,000 permutations for n = 68 (SDO), 72 (BSS), and 568 (BDO) gnomAD SNVs; shown is the 95% band). Dots indicate the observed mutational signature (black: within 95% band; red: outside the 95% band).
