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Chunk #30 — Autism: A Complex Genomic Disorder — Statistical evidence for specific risk loci

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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Several CNV regions have been firmly implicated in ASDs. Notably CNVs have been identified at several loci that are linked to known microdeletion syndromes including 16p11.2 (Levy et al., 2011; Sanders et al., 2011; Weiss et al., 2008), Williams Syndrome locus at 7q11.23 (Sanders et al.), Prader-Willi Angelman Syndrome at 15q11-13 (Glessner et al., 2009; Sanders et al., 2011), VCFS DiGeorge Syndrome at 22q11.2 (Sanders et al., 2011) and 1q21.1 (Sanders et al., 2011).