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Fig. 2 | Genome Medicine

Fig. 2

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

Fig. 2

Comparison of GEM performance with manually curated and CNLP-derived HPO terms in the benchmark cohort. Distribution of ranks for causal genes (A); GEM Bayes factors for causal genes (B); and number of candidates (hits) at BF ≥ 0.69 threshold (moderate support) (C). The black line in the graphs denotes the median. The asterisks represent statistical difference between the groups with p < 0.0001 from a two-tailed Wilcoxson matched pairs signed rank test (ranks showed no statistically significant difference)

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Genome Medicine

ISSN: 1756-994X

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