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