As mentioned previously (see “Estimate of Mutation Rate per Child”), we estimated the theoretical de novo coding mutation rate per child based on the observed mutation rate per bp and the number of bp in the RefSeq hg19 coding exome (Table 3). We then estimated two parameters: (1) the percent of cases that have a de novo variant contributing TD risk, and (2) the fraction of observed proband de novo variants that contribute to TD risk.
