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Chunk #73 — Experimental Procedures — Statistical analysis of de novo recurrence

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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 importance of the estimate of eCNVRs in unaffected populations for the determination of significance, we re-calculated “C” based on a combined set of confirmed de novo CNVs in controls described in the literature and obtained a highly similar result (C=242) (supplementary materials). Moreover, we determined that the results reported here remain significant under the plausible range of estimates for “C” (supplementary materials).