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Chunk #30 — Discussion — Genomewide association study of ASD

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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.
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We have sought to assess the veracity of these upper-ranked associations through replication and meta-analysis using summary GWAS findings from the Danish iPSYCH Project (n = 7783 ASD cases and 11359 controls) and the combined deCODE and SEED collection (n = 1369 ASD cases and 137308 controls). These analyses show that the concordance of the direction of effect is highly significant for the top 100 and top 70 markers, for the iPSYCH and deCODE/SEED ASD datasets, respectively.