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Chunk #14 — Overlap with rare mutations

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Biological insights from 108 schizophrenia-associated genetic loci.
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CNVs associated with schizophrenia overlap with those associated with ASD and intellectual disability9 as do genes with deleterious de novo mutations. 34 Here, we find significant overlap between genes in the schizophrenia GWAS associated intervals and those with de novo nonsynonymous mutations in schizophrenia (P=0.0061) (Extended Data Table 2), suggesting that mechanistic studies of rare genetic variation in schizophrenia will be informative for schizophrenia more widely. We also find evidence for overlap between genes in schizophrenia GWAS regions and those with de novo nonsynonymous mutations in intellectual disability (P=0.00024) and ASD (P=0.035), providing further support for the hypothesis that these disorders have partly overlapping pathophysiologies.9,34