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目 录
目 录
缩写表····························································································Ⅰ
摘要·······························································································Ⅱ
英文摘要·························································································Ⅱ
第一章 文献综述················································································1
1.1 拷贝数变异简介·········································································3
1.2 CNV 形成机制············································································4
1.2.1 非等位基因同源重组（NAHR ）···············································4
1.2.2 非同源末端连接（NHEJ ）······················································5
1.2.3 复制叉停滞和模板转换（FoSTeS ）···········································6
1.3 基于NGS 数据检测CNV 的方法····················································7
1.3.1 配对末端匹配·······································································7
1.3.2 分裂读数···········································································10
1.3.3 读深法··············································································10
1.3.4 基因组从头组装法·······························································14
1.4 研究目的和意义·······································································15
第二章 CNV 检测方法研究·································································16
2.1 材料 ······················································································16
2.1.1 实验数据···········································································16
2.1.2 实验设备···········································································16
2.2 实验方法 ················································································17
2.2.1 技术路线·········································
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