Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling.

ABSTRACT: Genetic diseases encompass a spectrum of disorders resulting from DNA variations. Preimplantation genetic testing (PGT) is a critical strategy for preventing recurrent miscarriage, fetal malformations, and the birth of children affected by chromosomal abnormalities and monogenic disorders. Traditional PGT techniques necessitate comprehensive pedigree genetic data for haplotype linkage analysis. In contrast, PGT employing third-generation sequencing (TGS) has distinct advantages, particularly in cases of incomplete pedigree information, de novo mutations, and complex pathogenic variants. Nevertheless, the widespread application of TGS-based PGT in clinical practice encounters hurdles owing to its high costs. Targeted sequencing technologies present a promising solution by selectively enrich

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC12798128 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature