Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.
Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.
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DOI：
10.3389/fped.2023.1199609
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发表时间：
2023
影响因子：
2.6
通讯作者：
Gui, Baoheng
中科院分区：
文献类型：
--
作者：
Zhan, Lixia;Gui, Chunrong;Wei, Wei;Liu, Juliang;Gui, Baoheng
关键词：
地中海贫血是一种遗传性血液疾病，造成重大的社会和经济负担。全面的筛查策略对于预防和管理这种疾病至关重要。第三代测序（TGS）作为一项突破性技术，在各种疾病的筛查和诊断应用中显示出巨大潜力，而其在地中海贫血检测中的应用尚处于起步阶段。本文旨在了解TGS技术的最新和最广泛的用途，优势，以及将其纳入地中海贫血的常规筛查和诊断中所面临的挑战和解决方案。总的来说，与传统方法和下一代测序技术相比，TGS显示出更高的阳性检测率和诊断准确率，这表明TGS将成为临床实验室进行内部地中海贫血检测的可行选择。在地中海贫血诊断中实施TGS技术将有助于制定有效的预防和管理战略，从而减轻这种疾病对个人和社会的负担。
Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention and management of this disease. Third-generation sequencing (TGS), a breakthrough technology, has shown great potential for screening and diagnostic applications in various diseases, while its application in thalassemia detection is still in its infancy. This review aims to understand the latest and most widespread uses, advantages of TGS technologies, as well as the challenges and solutions associated with their incorporation into routine screening and diagnosis of thalassemia. Overall, TGS has exhibited higher rates of positive detection and diagnostic accuracy compared to conventional methods and next-generation sequencing technologies, indicating that TGS will be a feasible option for clinical laboratories conducting in-house thalassemia testing. The implementation of TGS technology in thalassemia diagnosis will facilitate the development of effective prevention and management strategies, thereby reducing the burden of this disease on individuals and society.
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影响因子：
2.7
作者：
Li, Youqiong;Liang, Liang;Qin, Ting;Tian, Mao
通讯作者：
Tian, Mao
影响因子：
--
作者：
Li, Jun;Ye, Guimei;Zeng, Dan;Tian, Baodong;Wang, Wenjuan;Feng, Qiao;Zhu, Chunjiang
通讯作者：
Zhu, Chunjiang
DOI：
10.1038/s41397-017-0010-4
发表时间：
2019-04
期刊：
The pharmacogenomics journal
影响因子：
--
作者：
Mimori T;Yasuda J;Kuroki Y;Shibata TF;Katsuoka F;Saito S;Nariai N;Ono A;Nakai-Inagaki N;Misawa K;Tateno K;Kawai Y;Fuse N;Hozawa A;Kuriyama S;Sugawara J;Minegishi N;Suzuki K;Kinoshita K;Nagasaki M;Yamamoto M
通讯作者：
Yamamoto M
影响因子：
48
作者：
Karst, Soren M.;Ziels, Ryan M.;Albertsen, Mads
通讯作者：
Albertsen, Mads
影响因子：
1
作者：
Bao, Xiu-Qin;Wang, Ji-Cheng;Du, Li
通讯作者：
Du, Li