ArticleFrontiers in genetics2022
Detection of four rare thalassemia variants using Single-molecule realtime sequencing.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China.Journal of human genetics · 2026Article
- Article
- The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China.Frontiers in genetics · 2026Article
- Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants.Journal of clinical laboratory analysis · 2025Article
- A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.Molecular biology reports · 2025Article
- Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.Frontiers in genetics · 2025Article
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
- Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.Diagnostics (Basel, Switzerland) · 2023Review
- Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.Frontiers in genetics · 2023Article
- Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.Frontiers in pediatrics · 2023Review
- Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China.Frontiers in genetics · 2023Article
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Authors and funding
13 authors.
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Abstract
Conventional methods for the diagnosis of thalassemia include gap polymerase chain reaction (Gap-PCR), reverse membrane hybridization (RDB), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. In this study, we used single molecule real-time technology (SMRT) sequencing and discovered four rare variants that have not been identified by conventional diagnostic methods for thalassemia. We also performed genotype and phenotype analyses on family members of thalassemia patients. The SMRT technology detected five cases in which the proband had abnormal results by conventional diagnostic methods or inconsistencies between the genotype and phenotype. The variants included two cases of an α-globin gene cluster 27,311 bp deletion, --
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