Genome region aware CADD thresholds for noncoding variant prioritization.

Distribution of CADD scores between genomic regions Analysis of CADD score distributions per region revealed highly significant differences between benign and pathogenic variants for most genomic regions considered (Mann–Whitney U test, Benjamini–Hochberg FDR corrected P -value < 0.001), moderately significance for intergenic regions (adjusted P -value = .002), and no significant difference (adjusted P -value = 0.1554) for downstream regions, presumably because of the low number of pathogenic variants reported in this category ( n = 5).

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