Table 1.
Gene | Number of samplesa | Number of concordant samplesb | % Concordance |
---|---|---|---|
CYP2C19 c | 59 | 59 | 100 |
CYP2C9 | 59 | 59 | 100 |
CYP3A5 | 59 | 59 | 100 |
CYP4F2 | 45 | 36 | 80.0 |
DPYD d | 59 | 56 | 94.9 |
IFNL3 e | 59 | 59 | 100 |
SLCO1B1 d | 59 | 5 | 8.5 |
TPMT | 59 | 58 | 98.3 |
UGT1A1 d | 45 | 24 | 53.3 |
VKORC1 | 59 | 59 | 100 |
CYP, cytochrome P450; GeT‐RM, Genetic Testing Reference Materials Coordination Program.
aNumber of GeT‐RM characterized Coriell samples with available 1000 Genome VCF files (1000 Genomes Phase 3 data release). bNumber of samples with agreement between GeT‐RM consensus genotypes and PharmCAT‐derived genotypes using 1000 Genomes VCF files. c CYP2C19*1/*4 is considered concordant to CYP2C19*1/*4A based on presence of rs28399504; c.1A>G. dDetails of how concordance was calculated are described in the Supplementary Material . eGeT‐RM IFNL3 genotypes retrieved from the non consensus table (only one testing company provided IFNL3 genotypes).