Fig. 2: Preimplantation genetic testing for aneuploidies and structural rearrangements (PGT-A and PGT-SR) results of biopsied embryos in Family 2. | npj Genomic Medicine

Fig. 2: Preimplantation genetic testing for aneuploidies and structural rearrangements (PGT-A and PGT-SR) results of biopsied embryos in Family 2.

From: Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing

Fig. 2

a Comprehensive Analysis of PGT-A and PGT-SR Results of 6 embryos. Among the 6 embryos examined, only 1 were found to be euploid without translocation (E04), and the rest are with abnormal copy number variations (CNVs). D discarded embryos, F frozen embryos, NA not available. b Scatter diagrams illustrating CNVs detected in the 6 embryos by low-coverage whole genome sequencing WGS. c Results of linkage analyses (partial SNP sites excerpted) of the blastocyst-stage embryos. Twenty-five SNP markers linked to the breakpoints were selected to identify the balanced haplotype and the normal haplotype in each embryo. Blue bars indicate the paternal normal haplotype, red bars indicate the maternal balanced haplotype, and green bars indicate the maternal normal haplotype. ID, reference SNP cluster ID; Chr., chromosome number; Position, genomic location.

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