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Chunk #58 — Variable Expressivity of CNV Genotype: Genes Don’t Code for Behavior — Relating CNV genotype to neurobiology

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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Characterization of cellular phenotypes in humans is becoming tractable with the use of induced pluripotent stem cell (iPSC) technology (Dolmetsch and Geschwind, 2011). Human-derived iPSCs, which can be differentiated into a variety of neuronal cell types, offer great promise in understanding of innate cellular and molecular defects that contribute to the initiation and progression of neuropsychiatric disorders. Unlike genetically-engineered model systems, neuronal cell cultures derived from patients captures the complete set of risk alleles present in the patient germline and the genetic diversity of the patient population.