Extended Data Fig. 7: ddPCR assessment of pathogenic structural variants and recurrent sampling of pathogenic DNMs in F01, F09, and F13.
From: Autism risk in offspring can be assessed through quantification of male sperm mosaicism
a-c, AF (determined by ddPCR) of the mutant alleles in F09 (a), F10 (b), and F13 (c). DNA tested was derived from paternal sperm and the saliva (a and b) or blood (c, bl.) of the father, mother, or affected child. In addition, controls for sperm (sp) and blood (bl) are provided. d, AF (determined by ddPCR) comparing two biological replicates of paternal sperm for F01, F09, and F13. The samples showed comparable levels of AF over time for all three samples, however, F13 exhibited a minor, but statistically significant difference. ***P < 0.001 (unpaired t-test, two-tailed, degrees of freedom = 12). e-g, Relative copy number (determined by ddPCR) for the three indicated dSVs for blood- and sperm-derived samples. Note that there is no detectable abnormality in the paternal sperm copy number above noise level, suggesting absence of sperm mosaicism in these samples. h, Direct copy number quantification of the duplication by ddPCR. All graphs show individual data points (experimental triplicates except for Affected in g [experimental duplicate], and F01 and F13 in d [7 experimental replicates]) and mean ± SEM.
