Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing (Adv. Sci. 9/2025)

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Targeted Long-Read Sequencing of 1,020 β-Thalassemia Patients In article number 2410992, Yuhua Ye, Xiangmin Xu, and co-workers demonstrate the key haplotypes associated with ameliorated clinical symptoms of β-thalassemia by targeted long-read sequencing in a cohort of 1,020 β-thalassemia patients. These findings not only dissect the complex genome structure of the globin gene clusters and key regulatory regions through the long sequencing reads, but also provide potential targets for the therapeutic treatment of hemoglobinopathy.

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