Table 2.
Observed pharmacogenetic variants by WGS versus ES.
| Gene | OBS WGS | OBS WES | Variant | Drug(s) |
|---|---|---|---|---|
| ADRB1 | C/C | C/C | p.Gly389Arg | Beta-blockers |
| CDA | A/C | A/C | p.Lys27Gln | Gemcitabine, cisplatin |
| CYP2C8 | C/T | C/T | p.Arg139Lys | Paclitaxel |
| CYP2C8 | T/C | T/C | p.Lys339Arg | Paclitaxel |
| CYP2C9 | A/C | A/C | p.Ile359Leu | Warfarin |
| CYP2C9 | T/T(r = 2) | C/T(r = 65) | p.Arg144Cys | Warfarin |
| NAT2 | C/C | C/C | p.Ile114Thr | Isoniazid |
| POR | C/T | C/T | p.Ala503Val | Midazolam |
| TPMT | C/G | C/G | p.Ala80Pro | Purines |
| UGT1A3 | C/C | C/C | p.Trp11Arg | Estrones, flavonoids |
| UGT1A7 | C/C | C/C | p.Trp208Arg | Irinotecan |
| UGT1A7 | G/G | G/G | p.Asn129Lys | Irinotecan |