Fig. 3. Genomic landscape of disease-associated CNVs.

a Subjects (n) that are enrolled in the study based on disease category. Patients are classified into one of the four major disease categories or healthy controls. b Distribution of disease-associated deletions (top) and duplications (bottom) of CNVRs by length. Disease categories are color-coded. CNVRs associated with disease categories are on average larger than CNVRs not associated with disease categories (black-colored line), but do not significantly differ from one another. c Circos plot illustrating the distribution of CNVRs identified in the context of genomic elements. For all other layers from INNERMOST to OUTERMOST, the tracks show: sno/miRNAs (1), miRNA targets (2), conserved (PHAST) sites (3), frequency of duplication CNVRs (4), frequency of deletion CNVRs (5), recombination rates (r²) (6), expression of major EnCODE cell lines (7) corresponding to the candidate genes impacted by the respective DA-CNVRs (8). The innermost linkages reflect genes encoding the respective protein for all pairwise protein–protein interactions affected DA-CNVRs.