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Fig. 1 | Human Genomics

Fig. 1

From: Integrating rare genetic variants into pharmacogenetic drug response predictions

Fig. 1

The landscape of pharmacogenomic variability. a Pie chart showing the distribution of the identified 69,923 variants across transporters (blue), phase 1 (red) and phase 2 (green) enzymes, and other pharmacogenes (purple). b 57,723 (83%) of the identified 69,923 pharmacogenetic variants were novel as compared to dbSNP release 135. c Violin plots showing the evolutionary constraint on loss-of-function (LoF) alleles. High scores indicate significantly less LoF variants than expected by chance. Details regarding the statistical framework are given in Lek et al. [11]. Violin plots were generated using BoxPlotR [50]. d Of the identified variants, 98.5 and 96.2% were rare (MAF < 1%) or very rare (MAF < 0.1%), respectively, and 51.1% of all variants were only found in a single individual

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