Fig. 6.

Levels of mosaicism across validation experiments Boxplot of estimated level of mosaicism in validated mosaic DNMs, expressed as the variant allele fraction (VAF) from ultrahigh-depth sequencing, in the proband (blue) versus the parents (red). Parental variants are split into two distinctive groups: ‘low level’ (Parental/DNM, light red), which may be erroneously mistaken for DNMs in the child, and ‘high level’ (Parental/INH, dark red), which may be erroneously mistaken for constitutively inherited variants. P-values calculated using a Mann–Whitney–Wilcoxon test in R. Centre line = median; bounds of box = interquartile range; whiskers = quartile ± 1.5 × interquartile range