Chunk #38 — 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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We hypothesized that the absence of evidence of association for rare transmitted CNVs might be a consequence of the inability to differentiate functional from neutral variants. Consequently we looked to pathway analyses to help address this question, reasoning that if the specific genic content of CNVs contributed to disease risk, we would find a greater enrichment of biological pathways in probands versus siblings.