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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)