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Article

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Human mutation - 1 Jan 2026

Zhou Xiaoqiang, Chen Yue, Chen Shufen, Lian Jingli, Liu Yue, Yang Tingting, Wu Shuijuan, Liu Juan, Huang Xiang, Yang Xingkun

Abstract excerpt

Objective: The aim of this study is to evaluate the efficacy of accurate circular consensus long-read sequencing in the detection of rare thalassemia. Methods: Conventional molecular analysis on globin genes has limitations because of the broad spectrum of genetic variants, complex genetics, and genotype-phenotype correlation. Accurate circular consensus long-read sequencing is a novel tool that detects complex...

Topics

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beta-Globins
HBA2 gene
Genetic Association Studies
Genetic Variation
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Analysis, DNA

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Identifiers

PMID: 41532136
DOI: 10.1155/humu/8897128
PMCID: PMC12791157

Genes

HBB
HBA2
SEA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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