The presence of clusters of functionally related genes in a CNV is a more specific or more sensitive predictor of pathogenicity than the presence of OMIM or HIS genes. The percentage of CNVs which contain at least one functional cluster (have Cluster), disease gene from OMIMan (have OMIM) (OMIM 2012), or haploinsufficient gene (have HIS) from Dang et al. (2008). The height of the DECIPHER (blue) and NIJMEGEN (red) bars indicates the sensitivity of the predictor to pathogenic CNVs, whereas the height of control (gray) bars indicates the specificity of each predictor (a low bar is high specificity), above the bars is the odds ratio (OR) from the combined logistic regression.
