Fig. 6: Regulatory disruption scores prioritize pathogenic CNVs better than standard annotations.
From: Functional annotation of rare structural variation in the human brain
Number of pathogenic variants defined as 50% overlap with known pathogenic variant in ClinGen (84 deletions and 84 duplications) identified based on rank ordering deletions a and duplications b by length (yellow), number of genes deleted (green), number of intolerant genes deleted (purple) allele frequency (red), and regulatory disruption (blue). Where multiple variants had the same value, the order was random.
