Figure 2. Receiver operator curves (ROC) for six functional inference tools vs Type A and Type B enriched pharmacogenetic variants.
Receiver operator curves (ROC) for CADD, Mutation Assessor, MutPred, PolyPhen2, REVEL and SIFT generated with ROCR. All high-confident PharmGKB Category 1 missense variants (Type A enriched) were input as the positive set while a set of randomly selected common variants (MAF > 0.1) were input as the negative set using the Perl function rand() across the entire set of dbSNP missense variants. The same analysis was also performed for all low-confidence PharmGKB Category 3 or 4 missense variants (Type B enriched). Labels were inverted for SIFT due to lower scores representing likely damaging mutations and CADD and Mutation Assessor scores were scaled into the range of 0–1.
