Our estimate of the de novo rate is lower than initial reports in autism23 and schizophrenia24 but is comparable with more recent estimates in autism.25, 29, 30 Post hoc evaluation suggests it is unlikely that our filtering steps excluded large numbers of true de novo CNVs within our target size range. Of the 34 Agilent-validated de novos, 91% (N=31) had been rated (using MeZOD) as highly suggestive, whereas only 9% (N=3) had been called as ambiguous. Conversely, none of 33 putative de novos called by the Genotyping Console that were rejected by MeZOD were confirmed by Agilent.
