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Table 2 Prediction accuracy for embryo genotypes

From: Whole genome prediction for preimplantation genetic diagnosis

Individual Site Other parental genotype Number of sites Accuracy
Father Heterozygous, predicted Homozygous 1,138,851 99.5%
   Heterozygous, predicted 561,745 99.5%
   Heterozygous, unpredicted 32,045 NA
  Heterozygous, unpredicted All 112,699 NA
Mother Heterozygous, predicted Homozygous 1,179,791 99.5%
   Heterozygous, unpredicted 34,078 NA
  Heterozygous, unpredicted Homozygous 117,858 NA
   Heterozygous, unpredicted 16,018 NA
  1. Transmission predictions for this analysis made use of PS embryo genotypes as well as molecular haplotyping and population-phasing of the parental genomes, but did not make use of grandparental genotypes. Accuracy defined as the percentage of transmitted alleles correctly predicted, out of all predicted sites. 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. A total of 312,698 sites were omitted due to unsuccessful phasing in either parent (sum of categories above with ‘NA’ in accuracy column).
  2. NA: not applicable.