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Table 2 Targeted Phasing Results Summary

From: Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

Sample Chr Targeted Phasing Region Belonged Phase block Phase Block Length Contained Heterozygous SNPs
G2018004A_LYL 16 215,400–234,700 132,167–542,445 410.2 kb 309
G2018004B_LGB 16 215,400–234,700 223,804–543,224 319.4 kb 251
G2018001A_LSL X 43,817,770 43,752,981–44,015,286 262.3 kb 134
  1. SNPs Single nucleotide polymorphisms
  2. Targeted phasing region, the pathogenic mutation sites for respective samples; Belonged Phase block, the phase block that contained the mutation sites