Extended Data Fig. 2: Orthogonal validation of a subset of mosaic dSNVs.
From: Autism risk in offspring can be assessed through quantification of male sperm mosaicism
a, 18 variants that could be assessed by ultra-deep target amplicon sequencing (TAS): shown are the reported 200 × WGS results (square with horizontal line) and the results from TAS (closed circle) (shown are estimated fraction ± binomial 95% CI). Sperm (left, green) and blood (right, orange). Dashed line and grey box: upper 95% CI of an unrelated control and the area beneath to visualize likely false positive variants. y-axis: allelic fraction (%) for a log2 transformation of the data. Red text: variants that were considered to have failed orthogonal validation: 15/18 variants were successfully confirmed. Underlined variants were confirmed, but likely annotated as the wrong class (all 5 are probably SDO rather than SDE). For all data points, the estimated fraction and CI are based on the fraction of mutant reads, see Supplementary Data 2 and 4. b, Allelic fraction (determined by ddPCR or WGS read counts) of the mutant allele with the highest allelic fraction in sperm (F05: Chr22:23082101A > G). Sperm and Blood indicate samples from the father, other samples (Blood/ddPCR) were derived from the mother, the child harboring the dSNV (II-2), or control (Ctrl) blood. Graph shows individual data points (experimental triplicates) and mean ± SEM for the ddPCR data.
