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Chunk #4 — Ascertainment of pedigrees with autism and recent shared ancestry

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Identifying autism loci and genes by tracing recent shared ancestry.
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higher coverage. The single large de novo CNV discovered was a 3-Mb deletion at 22q11.21, the velocardiofacial syndrome (VCFS) locus (encompassing all SNPs between rs432770 and rs1014626), which has been previously reported in autistic patients (26). The relatively reduced M/F ratio of affected children and the reduced rate of linked de novo CNVs in the consanguineous sample (not significantly different from rates in control) both suggest that consanguineous pedigrees with autism are enriched for autosomal recessive causes similar to other congenital neurological disorders in consanguineous populations (23, 24).