Fig. 5: PGT for mtDNA disorders. | Nature Communications

Fig. 5: PGT for mtDNA disorders.

From: Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

Fig. 5

a Heteroplasmy levels in m.3243 A > G embryos as determined by PCR-RFLP for day-3 blastomere biopsy, day-5 TE biopsy and surplus embryo material (embryos 41–44) or using ~10X WGS-PGT (embryos 45–50). b Mean depth of coverage per mtDNA position is shown for ~10X WGS-PGT data from embryos sequenced for PGT-M or PGT-SR (outer ring, n = 23), deep sequencing with subsequent sub-sampling for PGT-MT (middle ring, n = 4) and direct ~10X sequencing for PGT-MT (inner ring, n = 2). Position 0 is at the top with the positions ordered clockwise and colour representing the number of reads per position. The MELAS mutation position (m.3243) is highlighted as a separate segment and magnified 30x compared to all other positions. PGT: preimplantation genetic testing; MT: mitochondrial DNA disorders; RFLP: restriction fragment length polymorphism; TE: trophectoderm biopsy; WGS: whole genome sequencing; M: monogenic; SR: structural rearrangement; mtDNA: mitochondrial DNA. Source data are provided as a Source Data file.

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