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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%
  1. Sites determined by comparison with Illumina trio sequencing (including the offspring) to have poor genotype quality scores or genotypes that violated Mendelian inheritance were discarded for the purpose of evaluating accuracy.