238 families (928 individuals) were selected from the SSC on the basis of: male probands with autism, low NVIQ, and discordant SRS with sibling and parents (n=40); female probands (n=46); multiple unaffected siblings (n=28); probands with known multigenic CNVs (n=15); and random selection (n=109). Thirteen families (6%) did not pass quality control (Supplementary Information) leaving 225 families (200 quartets, 25 trios) for analysis (Supplementary_Data_1). Of the 200 quartets, 194 (97%) probands had a diagnosis of autism and 6 (3%) were diagnosed with ASD; the median non-verbal IQ was 84. Three of these quartets have previously been reported as trios;4 there is no overlap between the current sample and those presented in the companion article.
