DataVXAdvanced SciencePaper
journal article·2025-03Open access

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

Yuhua Ye, Chao Niu, Aiping Mao, Lang Qin, Jiahan Zhan, Weijie Chen, Zhentian Liu, Tiantian Xie, Qianqian Zhang, Jiaqi Li, Li Huang, Wanli Meng, Yumeng Liu, Liuhua Liao, Junqin Cai, Riyang Liu, Xinhua Zhang, Lihong Zeng, Yaoyun Li, Bin Lin, Kui Li, Xiaoyun Hua, Binbin Huang, Honggui Qin, Yueyan Huang, Zhijing Huang, Jinquan Lao, Xiang Qu, Juanjuan Chen, Xiaoqin Feng, Qiujun Liu, Wanying Lin, Xiaoman Zhou, Yidan Liang, Xingjiang Long, Jiaofeng Qin, Lixiang Yan, Weijian Zhu, Lian Yu, Chengwu Fan, Deguo Tang, Tianyu Zhong, Jufang Tan, Zhilin Ren, Xiangmin Xu

Advanced Science· Volume 12· Issue 9
Publisher pageOpen full text
Source abstract

Abstract

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.
Source: openalex_inverted_index · Quality: baseline

Research context

OpenAlex topics: Hemoglobinopathies and Related Disorders · Genomics and Rare Diseases · Epigenetics and DNA Methylation

SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.

References

Reference metadata was not supplied for this record.