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. Author manuscript; available in PMC: 2014 Sep 1.
Published in final edited form as: Nat Genet. 2014 Feb 2;46(3):310–315. doi: 10.1038/ng.2892

Figure 3.

Figure 3

Receiver operating characteristics (ROC) for discriminating curated, pathogenic mutations defined by the NIH ClinVar database27 matched to apparently benign ESP alleles (DAF ≥ 5%)24 with the same categorical consequence. The left panel shows genome-wide variants for which GerpS, PhCons, and PhyloP scores are defined (n=16,334), while the middle panel limits the analysis to missense changes (n=15,154), with missing values imputed to an upper value limit of each score, and right panel to missense changes for which PolyPhen, SIFT and Grantham scores are all defined (n=13,358). Versions of the right panel that exclude the overlap between PolyPhen training data and the ClinVar database or use a CADD model trained without PolyPhen as a feature are shown in Supplementary Fig. 12. Area under the curve (AUC) values are provided in the figure legend for each of the scores used.