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全基因组重测序概要

2015-09-27 15:30  阅读(430)  评论(0)  分类:专业

全基因组重测序概要

无论是基于某一群体或者家系的全基因组重测序数据,信息分析内容大致包括以下几个方面:


初级分析内容:


主要包括calling SNP、calling InDel/CNV/SNV、以及calling structure variation以及对应的注释,也可以对筛选出的基因的GO富集分析,Pathway富集分析。

全基因组重测序概要

全基因组重测序概要

全基因组重测序概要

初级分析延伸:

1.SNP/SNV等各种不同类型指标的统计


2.融合基因的发现

全基因组重测序概要

3.推断结构变异形成的机制

全基因组重测序概要

4.分析变异结构各类属性:neutral coalescent分析、偏好性、新颖性分布、BreakPoint Junction分析等

全基因组重测序概要

全基因组重测序概要


全基因组重测序概要


全基因组重测序概要

高级分析:


1.SNP/SNV 与不同性状或疾病进行GWAS分析

全基因组重测序概要

2.遗传多样性和进化选择模式分析

全基因组重测序概要

3.其他


参考文献

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