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Chunk #48 — De Novo (or Recent) Mutation

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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Of course, this is accounting only for mutations that occur spontaneously in the affected individual. Despite strong selection, rare risk alleles may persist over multiple generations. Very rarely does this persistence manifest as a near-mendelian trait (Millar et al., 2000). More typically, the phenotypic expression of the recent mutation is variable.