SynthesisOrphanet journal of rare diseases2025
Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.
Synthesis in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
backgroundThalassemia is one of the most prevalent monogenic disorders in tropical and subtropical regions, imposing significant familial and social burdens on local populations. It is caused by point mutations or structural variations (SVs) in the α- or β-globin gene clusters. Due to the complex structure, full characterization of SVs has always been the focus and difficulty of molecular diagnosis of thalassemia patients.
methodsPeripheral blood of a Chinese boy with β-thalassemia intermedia phenotype and his family members were collected. Multiplex ligation dependent probe amplification (MLPA), long-read sequencing (LRS) and Sanger sequencing were used to analyze the variant in this family.
resultsA novel large duplication (αααα
conclusionsOur study identified a novel SV in the α-globin gene cluster and demonstrated that LRS was a superior approach for detecting novel rare SVs. The appropriate use of LRS significantly improves diagnostic accuracy when conventional methods are not capable of completely identifying complex SVs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.