Fig. 3: PGT for aneuploidy origin. | Nature Communications

Fig. 3: PGT for aneuploidy origin.

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

Fig. 3

a Schematic representation of trisomies with different segregational origins (meiosis I, meiosis II or mitosis) is shown, using close-relative phasing or using parents-only phasing to identify segregational origin. The segregational origin using parents-only phasing was determined by inspecting the distance between the segmented P1/M1 and P2/M2 at the centromeric and telomeric region. Further explanation is provided in Supplementary Note. b Representative cases of aneuploidies with different degrees of mosaicism. The degree of mosaicism was determined by calculating the distance between paternal and maternal BAF segments as indicated with curly brackets. c Representative haplarithms of embryos with trisomies with a different segregational origin. Top panel: schematic of the chromosomal constitution. Middle panel: haplarithms when using a close relative as referent. Bottom panel: haplarithms when using the same embryo as referent to phase the parents and define the segregational origin. P1/M1 and P2/M2 haplarithms are shown in blue and red dots, respectively. LogR values and segmented logRs are shown in black dots and orange line, respectively. Curly brackets indicate the distance between the paternal and maternal BAF segments. BAF: B-allele frequency. Source data are provided as a Source Data file.

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