Fig. 4

Comparative performance of parent-offspring trios or duos vs. singleton probands in the benchmark cohort. Causal gene rank (A); Bayes factors (B); and number of candidates (hits) above gene BF ≥ 0.69 (moderate support) (C) for 63 cases analyzed as parent-offspring trios (n = 59) or duos (n = 4), as compared with analysis as single probands, using both manually curated or CNLP-derived HPO terms. The black line in the graphs denotes the median. No statistically significance difference between the any manual/CNLP groups was found between trios versus single probands using the two-tailed Wilcoxson matched pairs signed rank test