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Evaluation of CNVs detection results.(a) The enrichment curve for a density score with respect to the segments already reported as pathogenic or of uncertain significance. (b) Venn diagram for the predicted rare CNVs (Predicted), confirmed as pathogenic or uncertain (Reported), segments significantly overlapping with DGV (DGV), segments with GAD genes (GAD), and segments selected as polymorphisms according to polymorphic profile (Polymorphisms).
