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Chunk #21 — RESULTS — Case-control analysis to define functional significance

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
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Tables 3 and 4 show the results of these analyses for recurrent deletions and duplications, respectively. We compared the ISCA case cohort of 15,749 cases to 10,118 combined controls from several recent publications.44–47 These reports used microarrays with levels of resolution equivalent to or higher than the ISCA array design; thus, there should be no significant difference in sensitivity in the calls between the case and control datasets given that the 14 regions analyzed in this study were ~600 kb or greater. Although not all the controls used in these studies were formally assessed for neurocognitive abnormalities, these datasets have been used before as control populations in other studies.