Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing (Adv. Sci. 9/2025)
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. [Image: see text]
Authors
- Jiahan Zhan
- Jiaofeng Qin
- Jufang Tan
- Tiantian Xie
- Yuhua Ye (ORCID: https://orcid.org/0000-0003-4443-3847)
- Tianyu Zhong (ORCID: https://orcid.org/0000-0003-1934-0032)
- Hong‐Yan Qin (ORCID: https://orcid.org/0000-0003-1038-7037)
- Lixiang Yan (ORCID: https://orcid.org/0000-0003-3818-045X)
- Yaoyun Li
- Riyang Liu (ORCID: https://orcid.org/0000-0001-6520-3931)
- Lihong Zeng
- Liuhua Liao
- Zhilin Ren
- Aiping Mao (ORCID: https://orcid.org/0000-0002-3260-8737)
- Wanli Meng
- Deguo Tang
- Jinquan Lao
- Qiujun Liu
- Jiaqi Li (ORCID: https://orcid.org/0000-0002-8308-9850)
- Qianqian Zhang (ORCID: https://orcid.org/0000-0003-1624-036X)
- Kui Li (ORCID: https://orcid.org/0000-0002-3942-3911)
- Chao Shi Niu (ORCID: https://orcid.org/0009-0005-6131-8113)
- Yumeng Liu (ORCID: https://orcid.org/0009-0002-9609-8112)
- Weijie Chen (ORCID: https://orcid.org/0000-0002-9780-1167)
- Li Huang (ORCID: https://orcid.org/0000-0002-5964-7090)
- Juanjuan Chen (ORCID: https://orcid.org/0000-0002-5042-996X)
- Chengwu Fan
- Xiaoqin Feng (ORCID: https://orcid.org/0000-0003-1166-0138)
- Binbin Huang (ORCID: https://orcid.org/0000-0002-8524-2425)
- Wanying Lin (ORCID: https://orcid.org/0000-0003-2715-5232)
- Weijian Zhu (ORCID: https://orcid.org/0000-0002-2120-5860)
- Xiaoman Zhou (ORCID: https://orcid.org/0000-0002-5558-0271)
- Xing‐Jiang Long
- Zhijing Huang (ORCID: https://orcid.org/0009-0000-0414-8203)
- Zhentian Liu (ORCID: https://orcid.org/0000-0003-4095-8670)
- Xiangmin Xu (ORCID: https://orcid.org/0000-0002-8652-1194)
- Jinfu Cai
- Lian Yu (ORCID: https://orcid.org/0000-0002-8808-8048)
- Yidan Liang
- Xiaoyun Hua
- Xiang Qu
- Yueyan Huang (ORCID: https://orcid.org/0000-0003-4489-4942)
- Lang Qin (ORCID: https://orcid.org/0000-0002-9831-6147)
- Xinhua Zhang
- Bin Lin (ORCID: https://orcid.org/0000-0003-0931-1393)
Publication Details
- Journal
- Advanced Science
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/advs.202570053
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00