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目的探讨有效的复杂性疾病单核苷酸多态性(SNPs)数据模拟方法,为疾病发病机理的研究提供帮助。方法运用HAPGEN2软件实现复杂性疾病SNPs数据的模拟,利用GTOOL软件和R语言实现SNPs数据格式的转换,采用LD图以及χ2检验对模拟效果进行评价。结果利用HAPGEN2以JPT+CHB人群的22号染色体的500、1 000、5 000个SNPs位点为参照,分别生成了致病位点个数为3、5、8的模拟数据。模拟数据与相对应的参照数据的LD模式基本相似,致病位点的差异显著性较为明显。结论 HAPGEN2是一种简单有效的SNPs数据模拟软件。
Objective To explore effective single nucleotide polymorphism (SNPs) data simulation methods for complex diseases and to provide help for the study of the pathogenesis of diseases. Methods The HAPGEN2 software was used to simulate the SNPs of complex diseases. The GTOOL software and R language were used to convert the SNPs data. The LD maps and χ2 test were used to evaluate the simulation results. Results HAPGEN2 was used to generate 500,1 000 and 5 000 SNPs loci on chromosome 22 of JPT + CHB population respectively. The simulated data are basically similar to the LD model of the corresponding reference data, and the significant difference of pathogenic sites is obvious. Conclusion HAPGEN2 is a simple and effective SNPs data simulation software.