TABLE 1.
Pharmacogenomic variation characterized by large‐scale sequencing data
| Gene category | Gene number | Sequencing method | Sequenced individuals | Variants identified | Rare variants identified (in %) | References |
|---|---|---|---|---|---|---|
| CYPs | 8 | WGS and WES | 141 614 | 6016 variants in exons | 98.8 | Zhou and Lauschke 27 |
| SLC transporters | 401 | WGS and WES | 141 456 | 204 287 variants in exons | 99.8 | Schaller and Lauschke 37 |
| SLCO transporters | 7 | WGS and WES | 138 632 | 9966 variants in exons | 99.3 | Zhang and Lauschke 38 |
| ABC transporters | 48 | WGS and WES | 138 632 | 62 793 variants in exons | 98.5 | Xiao et al. 39 |
| GPCRs | 108 | WES | 60 706 | 14 192 missense variants | 97.2 | Hauser et al. 40 |
| Drug target genes | 202 | Target gene sequencing | 14 002 | 1 variant per 17 bp | >95 | Nelson et al. 41 |
| Drug target genes | 606 | WGS and WES | 138 632 | 479 860 variants in exons | 98.1 | Zhou et al. 42 |
| Pharmacogenes | 208 | WES | 60 706 | 69 923 variants | 98.5 | Ingelman‐Sundberg et al. 12 |
| Pharmacogenes | 146 | WGS and WES | >6500 | 12 152 variants in exons | 92.9 | Kozyra et al. 32 |
Abbreviations: WES, whole‐exome sequencing; WGS, whole‐genome sequencing.