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Chunk #34 — Results — Analysis of rare transmitted CNVs in the SSC — Rare, transmitted autosomal CNVs are equally represented in probands and 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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Given the very strong association of rare de novo CNVs, we were somewhat surprised to find that rare transmitted CNVs were not present in greater numbers in affected individuals or in a greater proportion of probands versus siblings. As prior publications have shown an increased burden of specific subsets of CNVs in neuropsychiatric disorders including autism and schizophrenia, we considered multiple subcategories of rare transmitted events as well, including genic, exonic, brain-expressed, and ASD-related, and did not find a statistically significant result that survived correction for multiple comparisons (Figure 5).