We combined families and samples from two sources for the primary genetic association screen. The AGRE sample included nearly 3,000 individuals from over 780 multiplex autism families in the AGRE collection 3 genotyped at the Broad Institute on the Affymetrix 5.0 platform, which includes over 500,000 SNPs. The NIMH sample included a total of 1,233 individuals from 341 multiplex nuclear families (258 of which were independent of the AGRE sample) genotyped at the Johns Hopkins Center for Complex Disease Genomics on Affymetrix 5.0 and 500K platforms, including the same SNP markers as were genotyped in the AGRE sample.
