subject to an in-house bioinformatics pipeline to annotate variants that may disrupt gene function (by altering the coding sequence, the splice sites, or truncating the protein). On average, 735 variants per exome were potentially pathogenic, and out of these, 39 per genome (on average) were homozygous (Table S2). The availability of whole exome sequence allowed us to test each patient systematically for mutations in known autism genes on the autosomes as well as the X chromosome, and no inherited mutations that were predicted to be damaging in well-documented autism genes were found in the 16 patients.
