Fig. 4.

Performance evaluation on two real exome sequencing clinical data sets. a Hard-to-solve clinical cases¹⁴ with known genes on the left panel and novel genes on the right panel. b Data used in performance evaluation of clinical expert–driven pipeline.¹⁵ Lines with triangle dots represent methods utilizing both phenotype and genotype information, while lines with round dots represent prediction methods using only genotype information. CDF cumulative distribution function.