Figure 1.

Heterogenous Distribution of HPO Terms

(A) Heatmap of all 846 individuals in the cohort with all 31,742 HPO terms. A yellow dot signifies that an HPO term is present in an individual. The heatmap displays the overall sparsity and heterogeneity of the cohort and indicates that only a small subset of the 1,616 unique HPO terms are shared between individuals.

(B) Distributions of number of HPO terms per patient in the three sub-cohorts (EGRP, EPGP/Epi4K, and EuroEPINOMICS-RES), indicating the varying depth of phenotyping across these cohorts. Base terms refer to the explicitly assigned terms in each cohort, and propagated terms refer to the assigned terms including all higher-level terms in the ontology.