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A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays

机译:准确的等位基因频率估计的核心资源可根据在DNA微阵列上分型的DNA进行估算

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摘要

Analysing pooled DNA on microarrays is an efficient way to genotype hundreds of individuals for thousands of markers for genome-wide association. Although direct comparison of case and control fluorescence scores is possible, correction for differential hybridization of alleles is important, particularly for rare single nucleotide polymorphisms. Such correction relies on heterozygous fluorescence scores and requires the genotyping of hundreds of individuals to obtain sufficient estimates of the correction factor, completely negating any benefit gained by pooling samples. We explore the effect of differential hybridization on test statistics and provide a solution to this problem in the form of a central resource for the accumulation of heterozygous fluorescence scores, allowing accurate allele frequency estimation at no extra cost.
机译:在微阵列上分析合并的DNA是对成百上千的个体进行基因分型的有效方法,以用于数千个全基因组关联的标记。尽管可以直接比较病例和对照荧光评分,但校正等位基因差异杂交非常重要,特别是对于罕见的单核苷酸多态性。这种校正依赖于杂合荧光评分,并且需要对数百个个体进行基因分型以获得校正因子的足够估计,从而完全抵消了通过合并样品获得的任何好处。我们探索差异杂交对测试统计数据的影响,并以集中杂合荧光评分的中央资源的形式提供此问题的解决方案,无需任何额外费用即可进行准确的等位基因频率估算。

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