Fig. 7
From: Targeted next generation sequencing as a tool for precision medicine
In silico assessment of non-synonymous variation in pharmacogenes identified by PGxSeq (N = 235). a Frequency distribution of variants according to SIFT, PolyPhen-2, and CADD scores separated by minor allele frequency reported in the ExAC database. Shaded regions represent the proportion of potentially functional variants (or deleterious), defined as a scaled CADD score > 20 [42], a SIFT score < 0.05 [43], or a PolyPhen-2 score > 0.85 [44]. b Box and whisker plots of scaled CADD scores separated by gene; whiskers represent 10-90th percentile with purple symbol (■) representing the median. ABC, ATP binding cassette; CADD, Combined Annotation Dependent Depletion; ExAC, Exome Aggregation Consortium; MAF, minor allele frequency; SIFT, Sorting Intolerant from Tolerant; SLC, solute carrier