ArticleJournal of assisted reproduction and genetics2022
Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia.
Article in Journal of assisted reproduction and genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- Prospective clinical validation of targeted long-read sequencing for preimplantation genetic testing of α-thalassaemia.Reproductive biology and endocrinology : RB&E · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- Review
- Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy.Scientific reports · 2025Article
- A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).Journal of assisted reproduction and genetics · 2025Article
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells.Nucleic acids research · 2025Article
- Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China.Human genomics · 2025Article
- Application and Prospects of Long-Read Sequencers for Preimplantation Genetic Testing for Structural Rearrangements.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology.Frontiers in genetics · 2025Article
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
- Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.Obstetric medicine · 2024Article
- Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.BMC pediatrics · 2024Article
- Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.Journal of human genetics · 2023Article
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with aFrontiers in genetics · 2023Article
- Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.Frontiers in pediatrics · 2023Review
- Detection of four rare thalassemia variants using Single-molecule realtime sequencing.Frontiers in genetics · 2022Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study aimed to evaluate the value of long-read sequencing for preimplantation haplotype linkage analysis.
methodsThe genetic material of the three β-thalassemia mutation carrier couples was sequenced using single-molecule real-time sequencing in the 7.7-kb region of the HBB gene and a 7.4-kb region that partially overlapped with it to detect the presence of 17 common HBB gene mutations in the Chinese population and the haplotypes formed by the continuous array of single-nucleotide polymorphisms linked to these mutations. By using the same method to analyze multiple displacement amplification products of embryos from three families and comparing the results with those of the parents, it could be revealed whether the embryos carry disease-causing mutations without the need for a proband.
resultsThe HBB gene mutations of the three couples were accurately detected, and the haplotype linked to the pathogenic site was successfully obtained without the need for a proband. A total of 68.75% (22/32) of embryos from the three families successfully underwent haplotype linkage analysis, and the results were consistent with the results of NGS-based mutation site detection.
conclusionThis study supports long-read sequencing as a potential tool for preimplantation haplotype linkage analysis.
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