Extended Data Fig. 8: Embryo reconstruction approach. | Nature Medicine

Extended Data Fig. 8: Embryo reconstruction approach.

From: Whole-genome risk prediction of common diseases in human preimplantation embryos

Extended Data Fig. 8

Phased parent genomes and parental support (PS) embryo genotypes are used to reconstruct the embryo’s genome at euploid chromosomes. The phased parent genomes are determined in Extended Data Fig. 7. One parent’s (parent 1) transmitted haplotypes are shown in pink (labeled 1 and 2) and the other parent’s (parent 2) phased haplotypes are shown in purple (labeled 3 and 4). In step 1, the embryo’s PS genotype determines which parental haplotype is transmitted to the embryo (dotted line). Missing data in the embryo or the parents’ phased genomes is excluded. In step 2, positions where genotypes are available from both parents are combined to create the predicted embryo genome; positions with missing data are excluded.

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