Fig. 4.

Levels of mosaicism in saliva versus blood Comparison of the validated mosaic fraction using ultrahigh-depth sequencing in blood. versus saliva for mosaic DNMs that are either plausibly pathogenic loss-of-function (LOF) or functional variants in known developmental disorder genes (DDG2P, open diamonds), or likely benign synonymous variants in genes not currently associated with developmental disorders (not-DDG2P, filled circles). There is generally a good correlation between saliva and blood VAFs (DDG2P functional, solid line, R² = 0.6; non-DDG2P synonymous, dotted line, R² = 0.9) and there is no significant difference between the association of mosaic VAF in saliva versus blood using linear regression and including DDG2P status as a covariate