Figure 1
From: Incidental copy-number variants identified by routine genome testing in a clinical population
Strategy for identifying single-gene copy-number variants (CNVs) potentially conferring predisposition to dominant, late-onset disease. (Blue) Single-gene CNVs passing quality measures were detected in a clinical population. (Purple) The genes associated with dominant and recessive Online Mendelian Inheritance in Man database (OMIM) phenotypes were identified computationally. (Green) CNVs affecting dominant and X-linked recessive (in males) late-onset disease genes and unrelated to the patients’ current clinical symptoms (i.e., incidental) were identified and analyzed for disease-causing potential. *Review included visual inspection of each CNV log2 plot and exclusion of common polymorphic CNVs. **Late-onset was defined as a ≥ ~5% probability of disease presentation in adulthood. QC, quality control; XLR, X-linked recessive.
