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引用次数: 0
摘要
基因测序技术发展迅速,对研究和临床实践产生了重大影响。在这篇综述中,作者对下一代测序(NGS)和新兴方法进行了最新概述。与桑格测序相比,NGS极大地提高了测序产出,同时也更省时省力。作者介绍了短读数测序方法,如合成测序、离子半导体测序和纳米球测序。现在,第三代长读数测序有望克服短读数测序的许多局限性,例如可靠地解析重复序列和大的基因组重排的能力。通过将互补方法与大规模并行 DNA 测序相结合,现在可以更深入地了解疾病机制的生物学背景。纳米孔技术、原位核酸测序和基于显微镜的测序等新兴方法将继续推动这一领域的快速发展。这些新技术在血液病方面有许多潜在的应用,有望在未来实现精准和个性化医疗。
Next-Generation Sequencing and Emerging Technologies*
Genetic sequencing technologies are evolving at a rapid pace with major implications for research and clinical practice. In this review, the authors provide an updated overview of next-generation sequencing (NGS) and emerging methodologies. NGS has tremendously improved sequencing output while being more time and cost-efficient in comparison to Sanger sequencing. The authors describe short-read sequencing approaches, such as sequencing by synthesis, ion semiconductor sequencing, and nanoball sequencing. Third-generation long-read sequencing now promises to overcome many of the limitations of short-read sequencing, such as the ability to reliably resolve repeat sequences and large genomic rearrangements. By combining complementary methods with massively parallel DNA sequencing, a greater insight into the biological context of disease mechanisms is now possible. Emerging methodologies, such as advances in nanopore technology, in situ nucleic acid sequencing, and microscopy-based sequencing, will continue the rapid evolution of this area. These new technologies hold many potential applications for hematological disorders, with the promise of precision and personalized medical care in the future.
期刊介绍:
Seminars in Thrombosis and Hemostasis is a topic driven review journal that focuses on all issues relating to hemostatic and thrombotic disorders. As one of the premiere review journals in the field, Seminars in Thrombosis and Hemostasis serves as a comprehensive forum for important advances in clinical and laboratory diagnosis and therapeutic interventions. The journal also publishes peer reviewed original research papers.
Seminars offers an informed perspective on today''s pivotal issues, including hemophilia A & B, thrombophilia, gene therapy, venous and arterial thrombosis, von Willebrand disease, vascular disorders and thromboembolic diseases. Attention is also given to the latest developments in pharmaceutical drugs along with treatment and current management techniques. The journal also frequently publishes sponsored supplements to further highlight emerging trends in the field.