Chunk #40 — Results — Analysis of rare transmitted CNVs in the SSC — Rare transmitted CNVs show greater biological coherence in probands versus siblings

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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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For the current analysis, we elected to restrict our evaluation of pathways to the general question described here. A manuscript describing a more extensive pathway analysis is in preparation focusing on both structural and gene expression data from the SSC.