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Chunk #17 — PATHWAY ANALYSIS

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Distribution of disease-associated copy number variants across distinct disorders of cognitive development.
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Analysis of gene groupings based on DSM disorders also identified pathways that were specific to individual disorders. Significant ASD processes included exocytosis (p=.002), vesicle (p=.009), synaptic vesicle transport (p=.002), and regulation of neurotransmitter levels (p<.001). Notable ID processes identified actin cytoskeleton organization (p<.001), actin filament-based process (p<.001), tumor necrosis factor binding (p<.001), and regulation of acute inflammatory response (p=.02). Schizophrenia pathways were related to protein ubiquitination (p<.001) and ubiquitin-protein ligase activity (p<.001).