Fig. 5

Trade-off between GEM gene scores, maximal true positive rates, and number of candidates for review in the benchmark cohort. GEM gene scores are Bayes factors (BF) that can be used speed case review. A Gene maximal true positive rate achieved at the different BF thresholds (Y-axis). B Median number of candidate genes for review at each BF threshold. As the BF threshold is decreased, true positive rate increases, while the number of candidates to review remains manageable. Input HPO terms for this analysis were extracted by CNLP