the PTEN gene (chr10:89,641,498-89,658,394), which was also found in his unaffected father. Proband 1120 and 03 did not carry any deleterious CNVs that could potentially be pathogenic. On average, each proband had ~112,000 rare SNVs not previously detected by the 1000 Genomes Project. This is also likely to include most of de novo SNVs. By intersecting rare SNVs in probands with lists of genes whose disruption has been previously linked to ASD (Willsey et al., 2013) as well as the SFARI syndromic genes dataset (https://gene.sfari.org/autdb/Welcome.do), we found no rare SNVs that cause a known deleterious loss of function of an ASD gene. In summary, we found no de novo CNVs and/or no rare SNVs in probands that cause a known deleterious loss of function in the protein coding sequence of a gene previously involved in rare cases of syndromic or non-syndromic ASD.
