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. 2013 Jun 11;3(6):e270. doi: 10.1038/tp.2013.48

Table 1. Overview of the clinical samples from six published GWASs of ASDs11, 12, 13, 14, 15, 16.

GWAS Clinical sample Genotyping platform Phenotype Diagnosis
Wang et al.11 Combined discovery sample (AE): AGRE (943 families) a + ACC cohort (1453 cases and 7070 controls) from CHOP and several other US clinical sites Illumina ASD ADOS+ADI-R
         
Ma et al.12 CAP discovery sample (AE): four US clinical sites (438 families) Illumina Autism ADI-R+DSM-IV
         
Weiss et al.13 Combined discovery sample (AE), consisting of 1031 multiplex families with 1553 affected offspring from: AGRE (801 families) a + NIMH (341 families) Affymetrix ASD ADI-R
         
Salyakina et al.14 Combined sample: discovery sample from two US clinical sites (124 families) + AGRE validation sample (110 families) Illumina ASP ADI-R+DSM-IV
         
Hussman et al.15 Combined sample: sample from two US clinical sites (597 families) + AGRE sample (696 families) Illumina Autism ADI-R+DSM-IV
         
Anney et al.16 AGP Consortium discovery sample (AE): Autism (809 families) + ASD (1369 families) Illumina Autism+ASD ADOS+ADI-R
         

Abbreviations: ACC, Autism Case Control; ADOS, Autism Diagnostic Observation Schedule; ADI-R, Autism Diagnostic Interview-Revised; AE, all ethnicities; AGP, Autism Genome Project; AGRE, Autism Genetic Resource Exchange; ASD, autism spectrum disorder; ASP, Asperger's syndrome; CAP, Collaborative Autism Project; CHOP, Children's Hospital of Philadelphia; DSM-IV, Diagnostic and Statistical Manual of Mental Disorders-fourth edition; GWAS, genome-wide association study; NIMH, National Institute for Mental Health.

a

There is considerable overlap between these two clinical samples.11, 13