Fig. 2

Concordance among algorithms. a Distribution of proportion of variants that had concordant calls by any given pair of algorithms (among 18 algorithms) for benign (green) and pathogenic (orange) variants in ClinVar. b Scatterplots of true concordance (variant assertion matches ClinVar assertion) vs false concordance (variant assertion does not match ClinVar assertion) for combinations of three, four, or five algorithms at a time. An orange and a green point depict the true and false concordance of a combination for benign and pathogenic variants, respectively, in ClinVar. The rugs on top and bottom, left and right represent the distribution of false and true concordances, respectively. c Hierarchical clustering of 25 algorithms with scores for 14,819 variants in ClinVar. Red rectangles indicate robust clusters with an AU p value of > 0.99 (see “Methods”)