Fig. 4: PGT for structural rearrangements.

Representative haplarithms for embryos with structural rearrangements. Two embryos from family 1 are shown where the structural rearrangement is a translocation between chr8 and chr16 as indicated by the schematic chromosome representation. Haplarithms include BAFs, paternal haplotypes, paternal haplarithm and copy number indicated by logR with breakpoints as identified by Manta (green) and flanking haplotypes H1 (darkblue) and H2 (lightblue) indicated by the dashed box. P1/M1 and P2/M2 haplarithms are shown in blue and red dots, respectively. LogR values and segmented logRs are shown in black and orange, respectively. PGT: preimplantation genetic testing; BAFs: B-allele frequencies; Pat: paternal; H1: haplotype 1; H2: haplotype 2. Source data are provided as a Source Data file.