| 描述信息 |
Conventional PGT-M, based on next-generation sequencing (NGS), has limitations to analyze haplotype linkage when dealing with special pathogenic variants, particularly under conditions of de novo variant or incomplete pedigree information. We recruited four couples who underwent PGT-M cycles in our center. They are patients or carriers of alpha-thalassemia, beta-thalassemia, polycystic kidney disease-1, and spinocerebellar ataxia-1, respectively, with different variants (missense variants, insertions and deletions (InDels), large fragment deletions, and short tandem repeats (STRs)).We wanted to explore whether nanopore sequencing could be applied for haplotype analysis . |
