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
| 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 |
PM poor metabolizer, IM intermediate metabolizer, UM ultrarapid metabolizer
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)