Chunk #25 — RESULTS — Case-control analysis to define functional significance

Source

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Embedded

yes

Text

For six duplications initially classified as pathogenic (in 1q21.1 [MIM 612475], 7q11.23 [MIM 609757], 15q11.2-q13 [MIM 608636], 17p11.2 [MIM 610883], 17q12 and 22q11.2), the case-control analysis corroborated this classification (Table 4). The 16p11.2 duplication was initially classified as a VOUS; however, our case-control analysis demonstrates that this duplication is most likely pathogenic (OR=6.28; p=2.5E-05).