Fig. 6.

Performance of GEM condition match scores for diagnostic nomination in the benchmark cohort. A Ranks for reported diagnostic conditions for the benchmark dataset, using a GEM gene BF score ≥ 0.69 and sorted by CM score, for HPO terms derived from CNLP or manual curation. B Receiver-operator characteristic curves for the condition match (CM) score for all hits with BF ≥ 0. CNLP All: HPO extracted from clinical notes by CNLP; AUC = 0.91. Manual: Manually curated HPO terms; AUC = 0.88. CNLP Multiple Dx: CNLP-derived CM score for the true positive disorder versus the other possible disorders associated with that gene; AUC = 0.68. Manual Multiple Dx: As for CNLP-derived CM but using manually curated HPO terms; AUC = 0.69