Phenotypic prediction accuracy for samples with pathogenic variants. (A) The predicted (triangle) and observed (circle) frequencies of 8 a priori discriminatory HPO terms in cohorts 1 and 2. (B) Predicted causal gene displayed for each of the observed HHT genotypes in cohort 1, for clinician prediction using all HPO terms (upper panel; additional details in supplemental Table 5), and automated prediction through Bayesian modeling of the 8 discriminatory HPO terms (lower panel; additional details in supplemental Methods, supplemental Figure 4, and supplemental Table 6).
Figure 4.

Phenotypic prediction accuracy for samples with pathogenic variants. (A) The predicted (triangle) and observed (circle) frequencies of 8 a priori discriminatory HPO terms in cohorts 1 and 2. (B) Predicted causal gene displayed for each of the observed HHT genotypes in cohort 1, for clinician prediction using all HPO terms (upper panel; additional details in supplemental Table 5), and automated prediction through Bayesian modeling of the 8 discriminatory HPO terms (lower panel; additional details in supplemental Methods, supplemental Figure 4, and supplemental Table 6).

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