We next evaluated 186 TD trios ascertained through the Tourette Syndrome Association International Consortium for Genetics (TSAICG). Scharf et al. (2013) have previously described the ascertainment and phenotyping of this cohort. We compared the 173/186 (93.0%) trios passing our quality control metrics (Table S1) to the same set of 602 SSC control trios (Table 2; Figures 3A and 3B). Within the TSAICG cohort, we attempted validation on only a subset of de novo variants based on their validation likelihood (De Rubeis et al., 2014). Within the variants from the TSAICG cohort prioritized for validation, 94.3% of de novo variants confirmed, with 96.4% of SNVs and 60% of indels confirmed (Table S2). Again, all burden analyses were based on unconfirmed de novo variants in both TD and control cohorts. The distribution of de novo coding variants per individual in the TSAICG also follows an expected Poisson distribution (Figure S1).
