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Chunk #12 — Psychotic Disorders (BIP and SCZ) — Rare variation

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Genetic architectures of psychiatric disorders: the emerging picture and its implications.
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Multiple studies are now evaluating the role of de novo, rare, and uncommon exonic variation in BIP and SCZ using resequencing or genotyping approaches. Two small exome sequencing studies 56,57 reported rates of putatively functional mutations that exceeded null expectations in SCZ cases (although the rate of de novo point mutations was not elevated in cases and specific genes were not identified). Larger studies are ongoing and will illuminate this area in 2012–2013.