Second, we were unable to call CNVs smaller than 500kb due to genotyping batch effects. Although previous research has shown that >500kb events are most likely to be pathogenic,22,25 we may have missed smaller pathogenic CNVs in this sample. Third, albeit the largest for OCD and TS to date, our sample is still small compared to large-scale investigations of CNVs in other disorders.4,28,29 For this reason and because the number of patients with OCD/TS and rare, pathogenic CNVs appears to be small, we recommend caution in interpreting these results, pending further studies in larger OCD/TS samples that can refine the global and neurodevelopmental CNV burden estimates.
