ancestry’.Table 1Study design and sample size of the contributing ASD collections. For some collections, more than one genotyping panel was used or the study design differed, i.e., trios or case-control; in such cases, the sample was split into ‘sets’ based on genotyping array and designStudy nameSetDesignSample sizeM:F ratio% EuroCaseControlAutism Center of Excellence Network (ACE)Trios372372a 3.1:182.1Autism Genetic Resource Exchange (AGRE)[1]Trios572572a 3.5:1100.0[2]Trios10451045a 3.9:186.1Autism Genome Project (AGP)[1]Trios12591259a 5.4:195.9[2]Trios941941a 8.6:184.4Finnish Case-Control ASD CollectionCaCo1595263.3:199.7NIMH Repository and Montreal/Boston (MonBos) CollectionTrios117117a 4.1:195.5Population-Based Autism Genetics and Environment Study (PAGES)CaCo30512002.2:1100.0Simons Simplex Collection (SSC)[1]Trios396396a 7.1:186.2[2]Trios617617a 6.2:184.7[3]Trios804804a 5.9:182.0[4]Trios372372a 7.5:187.8Weiss Laboratory Autism Collection[1]CaCo3312497.2:1100.0[2]Trios9797a 1.2:1100.0Total738785674.9:190.8 aFor trio designs, the control individuals are pseudocontrols generated from non-transmitted alleles. M:F ratio proportions derived from case-only; % Euro is an approximation defined as similarity to reference genotypes from 1000 genomes project (see Additional file 1). All sample sizes reported are post-imputation quality control
