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Chunk #17 — Results — Replication

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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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Therefore, we sought replication of the primary PGC ASD GWAS (WW). Summary association data were obtained from the Danish iPSYCH ASD GWAS for all 180 LD-independent markers that were associated at P < 10−4. Of these, 11 (6.1%) met the nominal P < 0.05 threshold in the iPSYCH sample, a non-significant enrichment (Pr(K > = 11/180) = 0.29 where K is the number with P < 0.05). A step-wise binomial sign test was then performed to evaluate the concordance of direction of the effect for each pair of markers below a given rank. This analysis revealed significant enrichment for markers ranked within the top 100 associations (see Fig. 1a). Of the 11 (of 180) markers that were nominally associated in the Danish iPSYCH ASD GWAS, all ranked within the top 100 PGC ASD GWAS association signals (see Additional file 4).