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Chunk #19 — PATHWAY ANALYSIS

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Distribution of disease-associated copy number variants across distinct disorders of cognitive development.
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Finally, we conducted pathway analysis based on the category of the CNV (ie type A, B, or C). This showed distinct mechanisms for each CNV categories A, B, and C (Table S6, available online). Of note, category B (single gene) findings highlight synaptic processes, such as regulation of synaptic transmission (p=.001) and postsynaptic membrane (p=.02). Interesting, category A (recurrent intervals) identified Ras protein signal transduction as enriched (p=.03).