人类基因组结构变异检测方法
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摘要
本研究介绍了基因组结构变异检测的生物信息学基本方法和前沿技术。对基于第二代测序技术的四种检测方法(读对方法,读深方法,分裂片段方法和序列拼接方法)的原理和特点进行了详细解读,分析了第二代测序技术应用在检测结构变异上的特点与发展趋势。最后介绍了三代测序、Linked-reads和光学物理图谱等新技术在基因组结构变异检测中的应用,论述了融合新技术的结构变异检测方法的特点与优势。
The basic methods and frontier technologies of genome structural variations detection were introduced in this paper. The principles and features of the 4 detection methods(Read-pair method, Read-depth method, Spiltread method and Sequence Assembly method) based on next generation sequencing technology were elaborated and the characteristics and development trend of the next generation sequencing technology on detecting structural variations were analyzed. Finally, some new technologies and their applications in detecting genome structural variations were introduced, including the third generation sequencing, linked-reads and optics physical maps. The features and advantages of the detection methods mixed with new technologies were discussed.
The basic methods and frontier technologies of genome structural variations detection were introduced in this paper. The principles and features of the 4 detection methods(Read-pair method, Read-depth method, Spiltread method and Sequence Assembly method) based on next generation sequencing technology were elaborated and the characteristics and development trend of the next generation sequencing technology on detecting structural variations were analyzed. Finally, some new technologies and their applications in detecting genome structural variations were introduced, including the third generation sequencing, linked-reads and optics physical maps. The features and advantages of the detection methods mixed with new technologies were discussed.
引文
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Handsaker R.E.,Korn J.M.,Nemesh J.,and Mc Carroll S.A.,2011,Discovery and genotyping of genome structural polymorphism by sequencing on a population scale,Nature Genetics,43(3):269-276
Huddleston J.,and Eichler E.E.,2016,An incomplete understanding of human genetic variation,Genetics,202(4):1251-1254
Hurles M.E.,Dermitzakis E.T.,and Tyler-Smith C.,2008,The functional impact of structural variation in humans,Trends in Genetics Tig,24(5):238-245
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