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Table 1 Study 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 design

From: Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Study name Set Design Sample size M:F ratio % Euro
Case Control
Autism Center of Excellence Network (ACE)   Trios 372 372a 3.1:1 82.1
Autism Genetic Resource Exchange (AGRE) [1] Trios 572 572a 3.5:1 100.0
[2] Trios 1045 1045a 3.9:1 86.1
Autism Genome Project (AGP) [1] Trios 1259 1259a 5.4:1 95.9
[2] Trios 941 941a 8.6:1 84.4
Finnish Case-Control ASD Collection   CaCo 159 526 3.3:1 99.7
NIMH Repository and Montreal/Boston (MonBos) Collection   Trios 117 117a 4.1:1 95.5
Population-Based Autism Genetics and Environment Study (PAGES)   CaCo 305 1200 2.2:1 100.0
Simons Simplex Collection (SSC) [1] Trios 396 396a 7.1:1 86.2
[2] Trios 617 617a 6.2:1 84.7
[3] Trios 804 804a 5.9:1 82.0
[4] Trios 372 372a 7.5:1 87.8
Weiss Laboratory Autism Collection [1] CaCo 331 249 7.2:1 100.0
[2] Trios 97 97a 1.2:1 100.0
Total 7387 8567 4.9:1 90.8
  1. 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