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. 2019 Oct 15;15(10):e1007453. doi: 10.1371/journal.pcbi.1007453

Fig 2. Validation dataset software comparisons.

Fig 2

a) Percentage of identical calls between the ClinGen expert panel decisions and software prediction. Lenient thresholds are 0.80 for pathogenicity and 0.35 for benignity. Strict thresholds are 0.85 for pathogenicity and 0.20 for benignity. b) Absolute number of variants predictions. Pathogenic and benign variants correctly and incorrectly identified between the panel of expert and various software. (Metrics used; TAPES probability lenient; TAPES probability of pathogenicity prediction 0.35–0.80, TAPES probability strict; TAPES probability of pathogenicity prediction 0.20–0.85 TAPES ACMG: TAPES ACMG prediction, CharGer: CharGer prediction of pathogenicity based of a custom score, InterVar ACMG: InterVar ACMG prediction).