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计算机系统应用:2018,27(10):39-45
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肿瘤微卫星不稳定检测方法综述
陈玮1,2, 赵丹1,2, 李晓东1,2, 何小雨1,2, 李瑞琳1,2, 牛北方1,2,3
(1.中国科学院 计算机网络信息中心, 北京 100190;2.中国科学院大学 计算机与控制学院, 北京 100049;3.贵州大学 医学院, 贵阳 550025)
Review on Tumor Microsatellite Instability Detection Methods
CHEN Wei1,2, ZHAO Dan1,2, LI Xiao-Dong1,2, HE Xiao-Yu1,2, LI Rui-Lin1,2, NIU Bei-Fang1,2,3
(1.Computer Network Information Center, Chinese Academy of Sciences, Beijing 100190, China;2.School of Computer and Control Engineering, University of Chinese Academy of Sciences, Beijing 100049, China;3.School of Medicine, Guizhou University, Guiyang 550025, China)
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投稿时间:2018-03-06    修订日期:2018-04-03
中文摘要: 微卫星是广泛分布在真核生物基因组中的短串联重复序列.微卫星不稳定(Microsatellite Instability,MSI)是指由DNA错配修复系统故障引起的微卫星区域重复序列插入或缺失的现象.微卫星不稳定的检测对于肿瘤的早期诊断以及预后判断等具有重要的意义.临床上采用MSI-PCR以及MMR-IHC的实验方法检测MSI,随着下一代测序技术的发展,基于高通量测序数据的MSI检测方法及软件逐渐涌现.本文将从生物学实验方法和计算方法两个角度对当前的MSI检测方法进行介绍并讨论分析这些方法的优势及局限.
Abstract:Microsatellites are short repetitive sequences widespread in eukaryotic genomes. Microsatellite instability, the gain or loss of repeat units from repetitive DNA tracts caused by MisMatch Repair Deficiency (MMRD), is significant for tumor early diagnosis and prognosis. In current clinical practice, microsatellite instability detection is performed by experimental methods like MSI-PCR and MMR-IHC. With the development of next-generation sequencing technology, a number of MSI detection softwares utilizing high-throughput sequencing data have been developed. In this paper, we provide an overview on existing MSI detection methods, including experimental methods and computational methods, as well as their strengths and limits.
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基金项目:国家重点研发计划(2016YFC0503607,2016YFB0201901);国家自然科学基金(31771466);青海省科技成果转化专项(2016-SF-127);中国科学院信息化专项(XXH13504-08);中国科学院战略性先导科技专项(A类)(XDA12000000);中国科学院“百人计划”(牛北方)
引用文本:
陈玮,赵丹,李晓东,何小雨,李瑞琳,牛北方.肿瘤微卫星不稳定检测方法综述.计算机系统应用,2018,27(10):39-45
CHEN Wei,ZHAO Dan,LI Xiao-Dong,HE Xiao-Yu,LI Rui-Lin,NIU Bei-Fang.Review on Tumor Microsatellite Instability Detection Methods.COMPUTER SYSTEMS APPLICATIONS,2018,27(10):39-45

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