| 拷贝数变异的分型检测技术 |
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| 引用本文： | 李朋祥,晁天柱,肖君华. 拷贝数变异的分型检测技术[J]. 国际遗传学杂志, 2012, 35(5): 277-282 |
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| 作者姓名： | 李朋祥 晁天柱 肖君华 |
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| 作者单位： | 东华大学生物科学与生物技术研究所,上海,201620 |
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| 摘 要： | 拷贝数变异（copynumbervariants，CNVs）是生物基因组中一种重要的遗传变异形式。研究发现CNVs与许多人类复杂疾病相关，在研究个体表型差异和基因组进化上具有重要意义。现就各CNVs检测技术的原理、发展现状、优缺点及意义作一综述。
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| 关 键 词： | 拷贝数变异 CNVs检测技术 |
Copy number variations genotyping technology |
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| LI Peng-xiang , CHAO Tian-zhu , XIAO Jun-hua. Copy number variations genotyping technology[J]. International JOurnal of Genetics, 2012, 35(5): 277-282 |
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| Authors: | LI Peng-xiang CHAO Tian-zhu XIAO Jun-hua |
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| Affiliation: | ( Institute of Biological Sciences and Biotechnology, Donghua University, Shanghai 201620, China ) |
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| Abstract: | CNV （ copy number variant） is an important form of genetic variation in the genome. Studies have shown that CNVs are associated with many human complex diseases. CNVs play a significant role in the studies of individual phenotypie differences and genome evolution. In this article, we reviewed the principle, advances, advantages and disadvantages, significance of technologies of detecting CNVs. |
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| Keywords: | Copy number variants CNVs detection technology |
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