Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms - Chen, Dongjia; Xu, Yan; Fu, Yu; Wang, Yali; Liu, Yuliang; Ding, Chenhui; Cai, Bing; Pan, Jiafu; Wang, Jing; Li, Rong; Guo, Jing; Zhang, Han; et al. (Orphanet journal of rare diseases, 2023)
Keywords: Accuracy; Amniocentesis; Aneuploidy; Biopsy; Blastocysts; Blastocytes; Chromosomes; DNA probes; Duchenne's muscular dystrophy; Embryo transfer; Embryos; Fetuses; Gene deletion; Genetic analysis; Genetic counseling; Genetic disorders; Genetic screening; Genetic testing; Genomes; Germline mosaicism; Haplotype linkage analysis; Haplotypes; Linkage analysis; Medical research; Mosaicism; Mutation; Next generation sequencing; Polymerase chain reaction; Pregnancy; Preimplantation genetic testing; Prenatal diagnosis; Rare diseases; Short tandem repeats; Single nucleotide polymorphism; Trophectoderm; China; Germline mosaicism; Preimplantation genetic testing; Haplotype linkage analysis; Single nucleotide polymorphism; Next generation sequencing