Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family
Jianlong Zhuang,
Yu Zheng,
Yuying Jiang
et al.
Abstract:Objective. Increasingly rare thalassemia has been identified with the advanced use of long-read sequencing based on long-read technology. Here, we aim to present a novel δ/β-globin gene deletion identified by long-read sequencing technology. Methods. Enrolled in this study was a family from the Quanzhou region of Southeast China. Routine blood analysis and hemoglobin (Hb) capillary electrophoresis were used for hematological screening. Genetic testing for common α- and β-thalassemia was carried out using the r… Show more
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