Discrepancies between known and WES-predicted genotypes in 56 patients with SCD
| Patient . | RH allele . | Known genotypes† . | WES-predicted genotypes . | Confirmation methods . |
|---|---|---|---|---|
| 1 | D | RHD∗01 | Same | ⎼ |
| D | Deletion | Same | ⎼ | |
| CE | RHCE∗02 (RHCE∗Ce) | RHCE∗01 (RHCE∗ce) | Serology | |
| CE | RHCE∗01.20.01 (RHCE∗ce733G) | RHCE∗01.20.02 (RHCE∗ce 48C, 733G) | Serology | |
| 2 | D | RHD | RHD∗10.00 (RHD∗DAU0) | Sanger sequencing |
| D | RHD | RHD∗10.00 or (RHD∗DAU0) | Sanger sequencing | |
| CE | RHCE∗02 or RHCE∗Ce | Same | ⎼ | |
| CE | RHCE∗01.20.01 (RHCE∗ce733G) | RHCE∗01.20.02 (RHCE∗ce 48C, 733G) | Sanger sequencing | |
| 3 | D | RHD∗01 | Same | ⎼ |
| D | Deletion | Same | ⎼ | |
| CE | RHCE∗01 (RHCE∗ce) | An extra RHCE c.105C>T identified | Sanger sequencing | |
| CE | RHCE∗01.20.02 (RHCE∗ce 48C, 733G) | Sanger sequencing | ||
| 4 | D | RHD∗01 | Same | ⎼ |
| D | Deletion | Same | ⎼ | |
| CE | RHCE∗01 (RHCE∗ce) | Same | ⎼ | |
| CE | RHCE∗01 (RHCE∗ce) | RHCE∗01.01 (RHCE∗ce48C) | Sanger sequencing |
| Patient . | RH allele . | Known genotypes† . | WES-predicted genotypes . | Confirmation methods . |
|---|---|---|---|---|
| 1 | D | RHD∗01 | Same | ⎼ |
| D | Deletion | Same | ⎼ | |
| CE | RHCE∗02 (RHCE∗Ce) | RHCE∗01 (RHCE∗ce) | Serology | |
| CE | RHCE∗01.20.01 (RHCE∗ce733G) | RHCE∗01.20.02 (RHCE∗ce 48C, 733G) | Serology | |
| 2 | D | RHD | RHD∗10.00 (RHD∗DAU0) | Sanger sequencing |
| D | RHD | RHD∗10.00 or (RHD∗DAU0) | Sanger sequencing | |
| CE | RHCE∗02 or RHCE∗Ce | Same | ⎼ | |
| CE | RHCE∗01.20.01 (RHCE∗ce733G) | RHCE∗01.20.02 (RHCE∗ce 48C, 733G) | Sanger sequencing | |
| 3 | D | RHD∗01 | Same | ⎼ |
| D | Deletion | Same | ⎼ | |
| CE | RHCE∗01 (RHCE∗ce) | An extra RHCE c.105C>T identified | Sanger sequencing | |
| CE | RHCE∗01.20.02 (RHCE∗ce 48C, 733G) | Sanger sequencing | ||
| 4 | D | RHD∗01 | Same | ⎼ |
| D | Deletion | Same | ⎼ | |
| CE | RHCE∗01 (RHCE∗ce) | Same | ⎼ | |
| CE | RHCE∗01 (RHCE∗ce) | RHCE∗01.01 (RHCE∗ce48C) | Sanger sequencing |
Determined by standard RH genotyping methods of RH SNP array and targeted molecular assays, verified by Sanger sequencing or a second independent NGS or serology.