Chunk #24 — 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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We also analyzed the reciprocal duplications of the 14 recurrent deletion CNVs (Table 4). Determining the functional significance for duplications can be more challenging due to the more subtle and milder phenotypes associated with an increase in gene dosage compared to the more severe phenotypic effects of haploinsufficiency. The initial classifications for these CNVs ranged from VOUS to pathogenic events.