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Fig. 6 | Genome Medicine

Fig. 6

From: Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

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

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