| 摘要: |
| ［摘要］近年来，二代测序技术不断蓬勃发展，以其速度快、准确率高、成本低等优点逐步替代了第一代测序技术．其测序技术原理的不断创新和工程材料应用不断突破使得高通量的基因序列读取趋于个体化需求的应用．目前比较成熟的二代测序技术以454测序技术 、Solexa测序技术以及 SOLID测序技术为代表，应用二代测序技术的基本原理和性能特点，阐述其在临床医学上的相关应用． |
| 关键词: ［关键词］二代测序技术 序列分析 临床应用 |
| DOI： |
| 分类号: |
| 基金项目:［基金项目］国家自然科学基金资助项目（81260467） |
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| Clinical Application of the Next-generation Sequencing Technology |
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ZHOU Ying
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（Kunming Medical University，Kunming Yunnan 650500，China）
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| Abstract: |
| ［Abstract］In recent years，the next-generation sequencing （NGS）technology has gradually replaced the first generation with the advantages of fast， higher precision and low cost. The continuous innovation of gene sequencing technology principle and the new breakthroughs of engineering materials made high throughput gene sequencing technology meet the needs of individual diagnosis and treatment. At present， 454 sequencing technology， Solexa and SOLID sequencing technology are considered to be the representatives of the more mature NGS technology. This paper will introduce the basic principle， laboratory protocol， coefficient of performance and clinical application of NGS technology. |
| Key words: ［Key words］Next-generation sequencing technology Sequence analysis Clinical application |