Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review

Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review

Abstract Background Thalassemia 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...

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Main Authors: Zeyan Zhong, Ganwei Zheng, Dina Zhu, Yongqiong Liu, Zezhang Lin, Zhiyang Guan, Fu Xiong, Jianhong Chen, Xuan Shang
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Thalassemia
Structural variation
Long-read sequencing
Online Access:https://doi.org/10.1186/s13023-025-03701-8
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https://doi.org/10.1186/s13023-025-03701-8

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