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Figure 2 | Genome Medicine

Figure 2

From: Whole genome prediction for preimplantation genetic diagnosis

Figure 2

Results of embryo predictions. (a) Predicted transmission of parental haplotypes to the embryo after rapid array-based genotyping with ‘Parental Support’. A hidden Markov model incorporating parental phase and SNP array measurements of an embryo was used to obtain the probability of each parental haplotype being transmitted into each embryo. These states and state probabilities were used to determine which parental haplotypes composed the embryo genome and to define the location of meiotic recombination events. The example shown here is colored according to grandparental haplotype after incorporating SNP array measurements from grandparents within predictions. M: Maternal; P: Paternal. (b) Phasing of HBA1/HBA2 deletion in the embryo’s father via dilution pool sequencing. The deletion was identified using whole genome sequencing (WGS). The HBA1/HBA2 containing haplotype was determined by identifying multiple dilution pools that overlapped the deleted region (in blue). Transmission of this haplotype was predicted by comparing informative PS embryo genotyping sites (blue letters) with corresponding sites within parental haplotypes.

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