Eren Kübra, Taktakoğlu Nursema, Pirim Ibrahim
Faculty of Medicine, Department of Medical Biology and Genetic, Izmir Katip Celebi University, Izmir, Turkey.
Department of, Medical Biology, Faculty of Medicine, Atatürk University, Erzurum, Turkey.
Eurasian J Med. 2022 Dec;54(Suppl1):47-56. doi: 10.5152/eurasianjmed.2022.22280.
Next-generation sequencing (NGS) is a highly effective genetic diagnostic test used in disease diagnosis. Although the Sanger method is used as the traditional method in genome studies, the use of NGS methods has been increasing with the development of technology. The foundation of next-generation sequencing was laid with the methods developed by Allan Maxam-Walter Gilbert and 2 Nobel laureates, Frederick Sanger. Initially, first-generation sequencing methods completed a certain part of the DNA with great efforts in a few days, while in today's technology, the entire DNA of even the most complex organisms is sequenced in 1 day. Second- and third-generation sequencing methods have been developed with improvements in cost, time, and accuracy of sequencing. The data obtained from these methods are interpreted with bioinformatics and contributed to the development of next-generation sequencing technology. These developments have increased the interest in studies on the relationship between next-generation sequencing and DNA or RNA depending on diseases. In this review, past and present methods of next-generation sequencing technologies are mentioned in detail and the difficulties and conveniences of these methods are reviewed.
下一代测序（NGS）是一种用于疾病诊断的高效基因诊断测试。尽管桑格法在基因组研究中被用作传统方法，但随着技术的发展，NGS方法的使用一直在增加。下一代测序的基础是由艾伦·马克萨姆-沃尔特·吉尔伯特和两位诺贝尔奖获得者弗雷德里克·桑格开发的方法奠定的。最初，第一代测序方法需要花费数天时间、付出巨大努力才能完成DNA的某一部分测序，而在当今技术下，即使是最复杂生物体的整个DNA也能在一天内完成测序。随着测序成本、时间和准确性的提高，第二代和第三代测序方法也得到了发展。从这些方法获得的数据通过生物信息学进行解释，并为下一代测序技术的发展做出了贡献。这些进展增加了人们对基于疾病研究下一代测序与DNA或RNA之间关系的兴趣。在这篇综述中，详细介绍了下一代测序技术的过去和现在的方法，并对这些方法的困难和便利之处进行了综述。
