gwas snp 和_GWAS学习笔记4---SNP过滤

本文介绍了GWAS中SNP过滤的四个关键步骤:1) 缺失比例大于5%的SNP被移除;2) 最小等位基因频率(MAF)低于3%(或5%)的SNP因变异不足而排除;3) 不符合Hardy-Weinberg平衡的SNP可能因错误或自然选择被剔除;4) 使用vcftools将vcf文件转为plink格式并进行过滤。参考文献涉及预imputation SNP过滤对基因型推断结果的影响及GWAS的SNP质量控制算法。
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1:缺失比例(Missing

rates):(

GENO > 0.05 )

Shortly we will

apply more stringent criteria, such that GENO > 0.05. In this

case, 0.05*89 = 4.45 samples, meaning that if a SNP is missing in

4.45 more more samples, that SNP will be removed from the

dataset.

2:最小等位基因频率(Minor

Allele frequencies)(

MAF< 0.03 如果SNP较多可以设置为MAF<0.05)

MAF

is the Minor Allele Frequency. It can be used to exclude SNPs which

are not informative because they show little variation in the

sample set being analyzed. For instance, if a SNP shows variation

in only 1 of the 89 individuals, it is not useful statistically and

should be removed.

3:Removing SNPs

out of Hardy-Weinberg equilibrium(p-value > 10−6 -

10−4

)

Population

genetic theory suggests that under ‘normal’ condit

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