Table 3.
Samples from Previous GeT-RM Studies for Which Genotypes Have Been Revised (n = 47)
| Sample ID | Consensus genotype previous study | Consensus genotype this study |
|---|---|---|
| HG00436 | *1/*2×N | *2×2/*71 |
| HG00589 | *1/*2 (*21) | *1/*21 |
| HG01190 | *4/*5 | *68+*4/*5 |
| NA07439 | *4/*41×N | *4×2/*41 |
| NA10855 | *1/*4 | *1/(*68)+*4 |
| NA11832 | *1/*4 | *1/(*68)+*4 |
| NA12878 | *3/*4 | *3/(*68)+*4 |
| NA15245 | *4/*4×N | *4×2/*4 |
| NA17102 | *1/*17 (*40) | *1/*40 |
| NA17222 | *1/*2† | *2/*108 |
| NA17244 | *2/*4×N | *2×2/*4×2 (+hybrid) |
| NA17287 | No consensus† | *1/*83 |
| NA17448 | *1/*2 | *1/*28 |
| NA17454 | *1/*2×N | *1×2/*2×2 |
| NA18524 | *1/*10 (*36) | *1/*36×2+*10 |
| NA18526 | *1/[*10 (*36)] | *1/*36×2+*10 |
| NA18540 | *10/*41 | (*36+)10/*41 |
| NA18544 | *10/*41 | *10/*41 |
| NA18563 | *1/(*36) | *1/*36+*10 |
| NA18564 | *2/[*10 (*36)] | *2A/*36+*10 |
| NA18565 | *10/[*10 (*36)] | *10/*36×2 |
| NA18572 | (*36)/*41 | *36+*10/*41 |
| NA18617 | *10/[*10 (*36)] | *36+*10/*36+*10 |
| NA18959 | *2/[*10 (*36)] | *2/*36+*10 |
| NA18973 | *1/*2 (*21) | *1/*21 |
| NA18980 | *2/[*10 (*36)] | *2/*36+*10 |
| NA19109 | *2×N/*29 | *2×2/*29 |
| NA19143 | *2/*10 | *2 (*45)/*10 |
| NA19174 | (*4/*40) | *4/*40 |
| NA19207 | *2/*10×N | *2×2/*10 |
| NA19226 | *2/*2×N | *2/*2×2 |
| NA19785 | *1/*2×N | *1/*13+*2 |
| NA19819 | *2/*4×N | *2/*4×2 |
| NA19908 | *1/*2 | *1/*46 |
| NA19917 | *1/*17 (*40) | *1/*40 |
| NA19920 | *1/*4×N | *1/*4×2 |
| NA21781 | *2/*4×N | *2×2/*68+*4 |
| NA23090 | *1/(*36) | *1/*36+*10 |
| NA23093 | *1/(*36) | *1/*36+*10 |
| NA23246 | *10/*10×N | *10×2/*36+*10 |
| NA23275 | *1/*17 (*40) | *1/*40 |
| NA23296 | *2/*4×N | *2×2/*4 |
| NA23297 | *10/*17×N | *10×2/*17 |
| NA23313 | *2/*2×N | *2×2/*2 |
| NA23878 | ?/*4 | (*4N)+*4/*39 |
| NA24027 | *2/*6×N | *2×2/*6 |
| NA24217 | *2/*41×N | *2A/*41×3 |
Consensus genotypes from previous Genetic Testing Reference Material Program (GeT-RM) studies are as shown.
?, indicates that one of the alleles could not be determined.
†
Consensus genotype from the PGX1 study, all other genotypes are from the PGX2 study. Genotype, copy number variation, and sequencing results for these and all other samples for which the genotype did not change are detailed in Supplemental Table S2. Tentative assignments are shown in parentheses.