Table 3.
Summary of discordance between WES and SNP methods designated by nucleotide position in cDNA and RH exon that were resolved by Sanger re-sequencing
| Reason | cDNA position | Exon | WES | SNP array | Sanger re-sequence | Sample UPIDs |
|---|---|---|---|---|---|---|
| RHCE nucleotide assigned to RHD by WES | RHD c.186G>T | 2 | G/T | G/G | G/G | 10 |
| RHD c.602C>G | 4 | C/G | G/G | G/G | 60 | |
| RHD c.667T>G | 5 | T/G | G/G | G/G | 60 | |
| RHD c.697G>C | 5 | G/C | G/G | G/G | 84 | |
| RHD nucleotide assigned to RHCE by WES | RHCE c.410C>T | 3 | C/T | C/C | C/C | 7, 50, 82 |
| RHCE c.654G>C | 5 | G/C | G/G | G/G | 39 | |
| RHCE c.916A>G | 6 | A/G | A/A | A/A | 67, 104 | |
| Misassignment as a result of reference sequence | RHCE c.48G>C | 1 | G/C | G/G | G/G | 33, 81, 124 |
| RHCE c.48G>C | 1 | C/C | G/C | G/C | 38, 85 | |
| WES detects changes not included in SNP testing | RHD c.916G>A | 6 | G/A | NT | G/A | 28, 81 |
| RHCE c.941T>C | 7 | T/C | NT | T/C | 89, 102 |
NT, not tested.