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

Table 2 Targeted Phasing Results Summary

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

SNPs Single nucleotide polymorphisms
Targeted phasing region, the pathogenic mutation sites for respective samples; Belonged Phase block, the phase block that contained the mutation sites

ISSN: 1755-8794