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Chunk #5 — Results — Simons Simplex Collection summary characteristics

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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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A total of 4,457 individuals from 1,174 families were included in the study. Data from 1,124 families passed all quality control; 872 families were quartets that included two unaffected parents, a proband, and one unaffected sibling; 252 families were trios that included two unaffected parents and a proband (Figure 1).