Fig. 2.

Distribution of probe gene rank positions across 26 partial HPO-based queries. Four HPO-based gene query groups (10% HPO, 30% HPO, 50% HPO, and full list of HPO) and their subsequent gene rank positions are summarized for three tools- VarElect, Phenolyzer, and OMIMExplorer. The frequency of probe gene being identified as Rank 1, Rank 2–10, Rank 11–20, Rank 21–100 and > Rank 100 are represented across overall, In-house, known, and novel cohorts