Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
Fig 3
A) Performance of variant pathogenicity prediction programs in terms of AUC (area under the ROC curve) measure. B) Scatter plot of DeepSAV scores and baseline fitness scores for SAVs observed in gnomAD. Datapoints for four different MAF categories are shown. Their density plots are shown by the axes above (DeepSAV) and right (baseline fitness). C) to F) Two-dimensional histograms (made with R ggplot2 package) of DeepSAV scores and baseline fitness scores for gnomAD variants with MAF ≥ 0.01 (C), 0.001 ≤ MAF < 0.01 (D), 0.0001 ≤ MAF < 0.001 (E), and MAF < 0.0001 (F).