| 基于拷贝数变异的遗传关联研究 |
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| 引用本文： | 周雪崖,张学工. 基于拷贝数变异的遗传关联研究[J]. 科学通报, 2011, 56(6): 370-382. DOI: 10.1360/972010-1759 |
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| 作者姓名： | 周雪崖 张学工 |
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| 作者单位： | 清华大学生物信息学教育部重点实验室;清华信息科学与技术国家实验室(筹)生物信息学研究部清华大学自动化系;清华大学医学院; |
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| 基金项目： | 国家自然科学基金资助项目(30625012,61021063) |
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| 摘 要： | 存在于自然群体中DNA片段的拷贝数变异(copy number variations, CNVs)是基因组结构 性差异的常见形式. 人们早已意识到它在人群中普遍存在, 并设计出多种实验方法对其进行检 测和量化. 近年来, 伴随着实验技术的进步, 人群的CNV 图谱被不断完善、细化; 许多CNVs 和疾病的相关性被陆续报道. 对复杂疾病的CNV 关联研究已成为当前医学遗传学研究的重要 内容. 本文将总结和关联研究有关的CNV遗传特性, 分析CNV与疾病关联研究的进展与问题, 并探讨实验设计和数据分析策略.
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| 关 键 词： | 拷贝数变异 复杂疾病 关联研究 实验设计 数据分析 |
| 收稿时间： | 2010-11-19 |
Copy number variation based genetic association studies |
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| ZHOU XueYa &ZHANG XueGong , MOE Key Laboratory of Bioinformatics , Bioinformatics Division,TNLIST/. Copy number variation based genetic association studies[J]. Chinese Science Bulletin, 2011, 56(6): 370-382. DOI: 10.1360/972010-1759 |
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| Authors: | ZHOU XueYa &ZHANG XueGong MOE Key Laboratory of Bioinformatics Bioinformatics Division TNLIST/ |
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| Affiliation: | ZHOU XueYa 1 &ZHANG XueGong 1,2 1 MOE Key Laboratory of Bioinformatics and Bioinformatics Division,TNLIST/Department of Automation,Tsinghua University,Beijing 100084,China,2 School of Medicine |
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| Abstract: | Naturally occurring DNA copy number variations(CNVs) are a common form of genomic structural variations.It has long been appreciated that CNVs were ubiquitous in the human populations;and a variety of technologies have been developed to detect and quantify their existences.In parallel with the technological advancement,CNV maps for human populations have been con-structed and refined,and many CNV-disease associations were reported.The CNV-based genetic association study has become an important research area... |
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| Keywords: | copy number variation association study complex disease experimental design data analysis |
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