基础医学与临床 ›› 2019, Vol. 39 ›› Issue (9): 1361-1365.
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陈蓉1,罗家明2,张丁丁3
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摘要： 下一代测序技术（NGS）凭借其灵敏性好、准确率高等特点成为现代生命科学研究的重要工具之一。结缔组织病是一类以结缔组织受累为主要特征的风湿性疾病。本文综述了下一代测序技术的原理及特点, 结缔组织病及其常见病的概要，重点介绍了下一代测序技术在结缔组织病中的研究进展。最后对下一代测序技术在生命科学研究中存在的问题和今后的发展方向进行了展望。
关键词: 结缔组织病, 风湿性疾病, NGS
Abstract: The next-generation sequencing technology (NGS) is one of the most powerful tools in modern science research with high sensitivity and specificity. Connective tissue disease is a kind of rheumatic diseases characterized by connective tissue involvement. This paper reviews the principles and the characteristics of the NGS，research profiles of connective tissue disease and its frequent diseases with a particular focus on the application in the connective tissue disease．In the end, the existing problems of NGS in life science research and future directions are prospected．
Key words: Connective tissue diseases, rheumatic diseases, Next-generation sequencing technology
陈蓉 罗家明 张丁丁. 下一代测序技术在结缔组织病中的应用[J]. 基础医学与临床, 2019, 39(9): 1361-1365.
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