Fig. 3.

Comparing GDI with state-of-the-art gene-level methods: Mendelian genes vs. rare variants in patients. ROC curve comparisons between GDI and two state-of-the-art gene-level methods (genic intolerance and de novo excess) and combinations of these methods. (A) All Mendelian disease-causing genes and all patients’ variants. (B) Autosomal recessive disease-causing genes and homozygous variants from patients. (C) Autosomal dominant disease-causing genes and heterozygous variants from patients.