基于全基因组测序及外显子组测序的食管癌相关基因筛选及功能鉴定

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1、3分类号:R73学校代码：10114密级:学号：DR2011002基于全基因组测序及外显子组测序的食管癌相关基因筛选及功能鉴定Identificationofdrivergenesinesophagealcancerbywholegenomesequencingandwholeexomesequencingandfunctionalvalidationofthesegenes研究生：张玲指导教师：崔永萍教授专业名称：生理学研究方向：癌变机理及肿瘤分子标志谱学位类型：学术学位所在学院：基础医学院中国山西二〇一五年五月二十五日目录中文摘要...............

2、.................................................................................................................I英文摘要.............................................................................................................................IV常用缩写词中英文对照表.............................

3、.................................................................VIII第一部分全基因组测序及外显子组测序筛选食管鳞癌发生相关遗传变异...............11前言.............................................................................................................................12材料与方法..................................

4、...................................................................................32.1材料........................................................................................................................32.2方法......................................................................

5、..................................................43结果...........................................................................................................................103.1病例信息...................................................................................................

6、...........103.2测序深度及测序覆盖度......................................................................................103.3单核苷酸变异及小片段插入/缺失(SNV&InDel)............................................103.4拷贝数变异(CNV)...................................................................................

7、............143.5结构变异(SV)......................................................................................................144讨论...........................................................................................................................165结论.........................

8、.....