A total of 487 Caucasian families (1537 individuals) were genotyped. This dataset consisted of 80 multiplex families (more than one affected individual) and 407 singleton (parent-child trio) families. In addition, GWAS data were obtained from the Autism Genetic Resource Exchange (AGRE) (Autism Genetics Resource Exchange 2008) for use as a validation dataset. The full AGRE dataset is publicly available and contains families with the full spectrum of autism spectrum disorders. We selected only families with one or more individuals diagnosed with autism (using DSM-IV and ADI); affecteds with non-autism diagnosis within these families were excluded from the analysis. This resulted in a confirmation dataset of 680 multiplex families (3512 individuals) from the AGRE “SingleAllAgre” beadstudio file (Autism Genetics Resource Exchange 2008). Family and individual identifiers for all AGRE samples passed our quality control are listed in supplementary table 3.
