Skip to main content

Table 3 NGS-based detection of CYP2D6 whole gene copy number variation (CNV) in 183 subjects. For more detail on the detection, refer to Fig. 5

From: Targeted next generation sequencing as a tool for precision medicine

Subject ID CYP2D6 copy number detection CYP2D6 genotype Phenotype prediction
NGS TaqMana
Coverage
ratio
Z-score Gene copy number Ratio Gene copy number
PGAR844 0.55 −3.16 1 0.44 1 *1/*5 IM
PGAR867 0.51 −3.36 1 0.44 1 *1/*5 IM
PGON198 0.50 −2.96 1 0.53 1 *4/*5 PM
PGST66 0.43 −3.54 1 0.45 1 *3/*5 PM
PGST140 0.48 −3.39 1 0.43 1 *1/*5 IM
PGST217 0.45 −3.55 1 0.45 1 *1/*5 IM
PGST52 0.54 −2.74 1 0.45 1 *1/*5 IM
PGAR1070 0.47 −3.33 1 0.48 1 *4/*5 PM
PGAR1132 0.46 −3.79 1 0.49 1 *4/*5 PM
PGAR1622 1.44 3.59 > 2 1.40 > 2 *1/*1 UM
PGON142 1.30 3.20 > 2 1.48 > 2 *1/*1 UM
PGON287 1.62 4.04 > 2 1.90 > 2 *41/*4 IM
PGST38 1.32 1.91 > 2 1.38 > 2 *1/*4 IM
PGON194 1.29 2.25 > 2 1.98 > 2 *1/*4 IM
PGST223 1.60 3.25 > 2 1.86 > 2 *1/*1 UM
  1. PM poor metabolizer, IM intermediate metabolizer, UM ultrarapid metabolizer
  2. a Validation by TaqMan CNV assay in subjects that were identified with CNV (n = 15), and 48 subjects initially characterized to select a reference control group (n = 30)