Fig. 2.
Bootstrapping of GDI values: Mendelian genes vs. variants from patients. Bootstrapping simulation plots of the Mendelian disease-causing genes, together with the observed GDI values for WES rare variant data (MAF < 0.01) from patients, demonstrating a difference in the densities of the observed and expected sets. (A) All Mendelian disease-causing genes and all of the patients’ variants. (B) Autosomal recessive disease-causing genes and homozygous variants from patients. (C) Autosomal dominant disease-causing genes and heterozygous variants from the patients.