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全基因组关联分析与PLINK软件的应用

         

摘要

全基因组关联性分析是近几年发展起来的一种复杂性状的研究方法,与以往的候选基因研究策略所不同的是它不再受预先设定候选基因的限制,从而为进一步了解和控制人类复杂性疾病发生的遗传特征提供了重要的线索.现以1000个样本为例,为了便于数据分析,用MATLAB软件将每个位点的碱基编码方式转换成数值编码方式,接着用概率统计的思想和MATLAB对数据进行预处理.然后通过PLINK软件对这1000个样本的碱基对进行分析,得出这些位点的曼哈顿图、检验显著性值和发病风险率,最后结合全基因组关联性分析筛选出与疾病有显著性关联的位点是:rs227328.从分析疾病与致病位点关系的过程中可以体会到巧妙运用一些数据处理软件可以减少遗传学研究过程中的成本.%Genome-wide association analysis is a new method of complex character research, which is developing rapidly in recent years, and provides an important clue for understanding and controlling the complexity of human genetic disease. However, the chief drawback of this method is expensive genotyping. In order to solve this problem, using PLINK software for statistical analysis of gene loci contained. Now, there were 1000 samples as an example. For the sake of facilitate data analysis, first of all, using MATLAB software transform the encoding of base pairs to the numerical code, then to got statistical analysis for all base pairs by PLINK software, also Manhattan figure, the test significant value, the risk of disease. Finally, Selecting the sites rs227328 combining with genome-wide association analysis method, which are relevant with disease well. From what has discussed above, we can get that it can reduce some cost in the process of genetic research by using some data processing software cleverly.

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