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Fig. 3 | Genome Medicine

Fig. 3

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

Fig. 3

Impact of missing data and mis-phenotyping on GEM performance in the benchmark cohort. Causal gene rank (A); Bayes factors for causal genes (B); and number of candidates (hits) above gene BF ≥ 0.69 threshold (moderate support) (C) under standard conditions, withdrawing ClinVar information, and permuting HPO terms extracted by CNLP. The black line in the graphs denotes the median

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