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Chunk #77 — Experimental Procedures — Genotype-Phenotype analysis

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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 each sample with a 16p11.2 deletion (8 samples) or duplication (6 samples) or 7q11.23 duplication (4 samples) 5 control probands were selected based on a matching hierarchy: age (100% of control probands matched), sex (100%), genetic distance (91%, based on five-dimensional ancestry map), collecting site (46%), and quartet/trio family (34%). Probands with de novo CNVs or CNVs in regions previously associated with ASD were removed prior to matching; each control proband was only included once.