Fig. 5
From: Targeted next generation sequencing as a tool for precision medicine
Next-generation sequencing (NGS)-based detection of CYP2D6 copy number variation. a Representative NGS output for a duplication of the whole CYP2D6 gene (Subject PGAR1622 with CYP2D6*1/*1 genotype; refer to Table 2 for more detail). b Representative NGS output for a heterozygous deletion of the whole CYP2D6 gene (Subject PGST217 with CYP2D6*1/*5 genotype; refer to Table 2 for more detail). Different regions of the output are as follows: (i) Exon map of the CYP2D6 gene. (ii) PGxSeq probe target regions. (iii) Called CNV state per probe target region, determined by ratio and z-score metrics. (iv) Normalized ratio metric computed for each NGS probe target region in CYP2D6; sample coverage compared to reference controls (N = 30). (v) Z-score metric: number of standard deviations the depth of coverage is from the reference control mean coverage