拷贝数变异与蛋白-蛋白相互作用网络基因表达的全基因组关联研究

Chihyun Park, Jaegyoon Ahn, Youngmi Yoon, Sanghyun Park
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引用次数: 0

摘要

拷贝数变异(拷贝数变异)是人类基因组遗传结构变异之一,与基因的功能密切相关。特别是对遗传病人的全基因组关联研究进行了研究。然而,很少有研究推断出CNV与正常人的遗传功能。在本文中,我们提出了一种不考虑基因位点的分析方法来揭示常见CNV与基因之间的功能关系。为了实现这一目标,我们提出了异质性生物学数据的数据集成方法和新的测量方法,可以计算常见CNV与基因之间的相关性。为了验证所提出方法的意义,我们在GO数据库上进行了多次验证测试。结果表明,与随机检验相比,该方法具有足够的显著性,可以系统地产生与常见CNV相关性强的遗传功能候选项。
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Genome-Wide Association Study between Copy Number Variation and Trans-Gene Expression by Protein-Protein Interaction-Network
The CNV (Copy Number Variation) which is one of the genetic structural variations in human genome is closely related with the function of gene. In particular, the genome-wide association studies for genetic diseased persons have been researched. However, there have been few studies which infer the genetic function of CNV with normal human. In this paper, we propose the analysis method to reveal the functional relationship between common CNV and genes without considering their genomic loci. To achieve that, we propose the data integration method for heterogeneity biological data and novel measurement which can calculate the correlation between common CNV and genes. To verify the significance of proposed method, we has experimented several verification tests with GO database. The result showed that the novel measurement had enough significance compared with random test and the proposed method could systematically produce the candidates of genetic function which have strong correlation with common CNV.
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