the failure to detect a statistically significant difference, if it is a false negative finding, was the result of insufficient resolution, but more likely the limitations imposed by sample size. Finally, our use of a subgroup of controls related to individuals with ASD could have resulted in the presence of affected individuals in our control sample. In this case, the liability would have been for Type II error, given the known increased burden of rare CNVs among individuals with ASD. Despite these issues, our data clearly demonstrate the value of pursuing rare variant and CNV analyses in TS, and highlight the pressing need for studies of larger cohorts to replicate, clarify, and extend these findings.
