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A ν-support vector regression based approach for predicting imputation quality

机译:基于ν支持向量回归的插补质量预测方法

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摘要

BackgroundDecades of genome-wide association studies (GWAS) have accumulated large volumes of genomic data that can potentially be reused to increase statistical power of new studies, but different genotyping platforms with different marker sets have been used as biotechnology has evolved, preventing pooling and comparability of old and new data. For example, to pool together data collected by 550K chips with newer data collected by 900K chips, we will need to impute missing loci. Many imputation algorithms have been developed, but the posteriori probabilities estimated by those algorithms are not a reliable measure the quality of the imputation. Recently, many studies have used an imputation quality score (IQS) to measure the quality of imputation. The IQS requires to know true alleles to estimate. Only when the population and the imputation loci are identical can we reuse the estimated IQS when the true alleles are unknown.
机译:背景技术数十年来,全基因组关联研究(GWAS)积累了大量的基因组数据,可以潜在地重复使用以增加新研究的统计能力,但是随着生物技术的发展,已经使用了具有不同标记集的不同基因分型平台,从而防止了合并和可比性旧数据和新数据。例如,要将550K芯片收集的数据与900K芯片收集的更新数据集中在一起,我们将需要估算缺失的基因座。已经开发了许多插补算法,但是由那些算法估计的后验概率不是插补质量的可靠度量。最近,许多研究已经使用插补质量评分(IQS)来衡量插补的质量。 IQS需要知道真实的等位基因以进行估计。只有当总体和估算位点相同时,才可以在真实等位基因未知时重用估计的IQS。

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