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Fig. 2 | Human Genomics

Fig. 2

From: Integrating rare genetic variants into pharmacogenetic drug response predictions

Fig. 2

Rare genetic variants contribute substantially to pharmacogenomic variability. a The frequency of putatively functional variants is plotted in log scale and indicated as dots connected by the black line for each of the 208 pharmacogenes analyzed (right y-axis). The fraction of this functional variability that is allotted to common (blue) or rare (red) variants is indicated on the left y-axis. Importantly, overall genetic variability as well as the fraction of functional variation that is allotted to rare variants differs considerably between genes. b Rare genetic polymorphisms in pharmacogenes are enriched in variants predicted to cause functional alterations. c Across the 208 ADME genes analyzed, each individual was found to harbor on average 4.4 rare functional variants (frameshift, splice, start-lost, stop-gain, and putatively functional missense variants). Of these, 1.8, 1.7, 0.7, and 0.2 are allotted to transporters, phase 1 and phase 2 enzymes, and other pharmacogenes, respectively

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