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).