In the 484 TD trios passing quality control, we observed 199 damaging de novo variants. However, seven of these variants did not pass validation, leaving 192 damaging variants. Within these, four genes had two damaging de novo variants, and one gene had ≥ 3 damaging variants. Therefore, to estimate the number of genes contributing risk to TD, we leveraged a maximum likelihood estimation (MLE) procedure to identify the number of genes (we tested between 1:2500) that best fits these observations (Homsy et al., 2015).
