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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.