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Chunk #53 — Discussion

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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The results further show that the risk associated with large de novo events is related to their greater genic content, even after controlling for larger size. This observation points to two countervailing hypotheses: first, that the greater gene number is a surrogate for the increased chance of disrupting one particular gene or regulatory region due to the involvement of a larger segment of the coding genome; or second, that it is the contribution of multiple genes and/or regulatory regions simultaneously within these CNVs that increases risk.