colleagues’ work shows that the de novo SNV and indel variants with high likelihood of validation have validation rate 97.3% and 92.3%, respectively. Therefore, we carried out validation on all low de novo variants and a subset of medium and high indel de novo variants by Sanger Sequencing or by Sequenom SNP genotyping. Due to previously demonstrated high validation rate, we randomly chose only 87% of the high SNV variants for validation. For the TSAICG cohort, we were unable to attempt validation on 35 variants, and we did not attempt validation on 30 based on the validation prediction described above. In the remaining 88, 83 confirmed (94.3%); 80/83 were de novo SNVs (96.4%) and 3/5 were de novo indels (60%). We provide A list of all predicted de novo variants and their confirmation status in Table S2.
