Table 2 Targeted NGS and haplotype analysis results of the pedigree.

From: Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping

Embryo

F

F

haplotype 1

haplotype 2

upstream/intragenic /downstream

E1

11/0/13

0/0/0

E2

11/0/13

0/0/0

E3

0/0/0

0/0/0

E4

10/0/6

0/0/0

E5

0/0/0

0/0/0

E6

0/0/0

0/0/0

E7

9/0/12

0/0/0

  1. The SNP genotype of the father is heterozygous, and both the paternal grandmother and mother are homozygous but have different SNP genotypes.
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