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Estimating genotyping error rates from Mendelian errors in SNP array genotypes and their impact on inference.

机译:从SNP阵列基因型中的孟德尔错误估计基因分型错误率及其对推断的影响。

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摘要

A simple method of inferring the genotyping error rate of SNP arrays and similar high-throughput genotyping methods from Mendelian errors is described. Application to genotypes from small families using the Affymetrix GeneChip Human Mapping 50 k Array indicates an error rate of about 0.1%, and this rate can be reduced by increasing the quality criterion for calls, though at the cost of a reduced genotype call rate, which limits the benefit available. Simulated data are used to show that the number of SNPs on this array is sufficient for such a low error rate to have little impact on identical by descent-based inference for disease linkage in sib-pair studies.
机译:描述了一种从孟德尔误差中推断SNP阵列基因分型错误率的简单方法以及类似的高通量基因分型方法。使用Affymetrix GeneChip Human Mapping 50 k阵列应用于小型家族的基因型时,错误率约为0.1%,可以通过提高通话质量标准来降低该错误率,尽管这样做的代价是降低了基因型的通话率。限制了可用利益。模拟数据用于显示该阵列上SNP的数量足以使如此低的错误率对基于同胞对研究的疾病连锁基于血统的推断几乎没有影响。

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