Figure 4.

For each chromosome an ideogram together with the haplotype blocks after SNP array (top) and scGBS (bottom) is shown. Dark and light blue represent paternal haplotyping, whereas red and light red represent maternal haplotyping. Transition from dark to light color or vice versa represents an homologous recombination site. (A) Genome-wide haplotype block comparison of scGBS- and SNP array-based haplotyping results for a single blastomere biopsy sample from family 4. Phasing occurred via an affected sibling, which results in the availability of both maternal and paternal haplotypes. (B) Genome-wide haplotype block comparison of scGBS- and SNP array-based haplotyping results for a trophectoderm biopsy sample from family 5. Phasing occurred via maternal grandparents, hence only maternal haplotypes are drawn.