Table 1 Summary of haplotype sources and the number of variants phased/predicted
From: Whole genome prediction for preimplantation genetic diagnosis
Technique | Mother | Father | Mother (% of all het variants) | Father (% of all het variants) | |
|---|---|---|---|---|---|
‘Parental Support’ embryo genotypes | Phased | 75,869 | 73,622 | 3.9% | 3.9% |
Phased and predicted | 73,003 | 71,362 | 3.8% | 3.8% | |
(+) Phasing by dilution pool sequencing | Phased | 1,829,314 | 1,751,004 | 94.2% | 92.4% |
Phased and predicted | 1,672,932 | 1,589,836 | 86.2% | 83.9% | |
(+) Phasing by population reference panel | Phased | 1,840,200 | 1,895,730 | 97.1% | 97.6% |
Phased and predicted | 1,732,641 | 1,775,614 | 91.4% | 91.5% | |
(+) 10× sequence from grandparents | Phased | 1,922,421 | 1,875,363 | 99.0% | 98.9% |
Phased and predicted | 1,880,092 | 1,847,297 | 96.8% | 97.5% |