DIST: direct imputation of summary statistics for unmeasured SNPs.
DIST: direct imputation of summary statistics for unmeasured SNPs.
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DOI：
10.1093/bioinformatics/btt500
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发表时间：
2013-11-15
期刊：
影响因子：
--
通讯作者：
Bacanu SA
中科院分区：
文献类型：
--
作者：
Lee D;Bigdeli TB;Riley BP;Fanous AH;Bacanu SA
动机：基因分型方法被用来提高全基因组关联研究的分辨率，从而提高遗传信号的检测率。尽管大多数研究都报告了所有单变量汇总统计数据，但其中许多研究限制了获得受试者水平的基因类型的机会。因为所有的基因归类方法都需要这样一种途径，所以开发一种无需经过基因类型归类的临时步骤就可以归类汇总统计数据的方法是很有帮助的。即使当受试者水平的基因型别可用时，由于典型的基因型别推算的大量计算成本，仍需要更快的推算方法。结果：汇总统计量的直接归因法(DIST)无需首先归因于个体水平的基因型别，即可归因于未分型变异的汇总统计量。这是通过(I)使用多变量正态变量的条件期望公式和(Ii)使用来自相关参考总体的相关结构来实现的。与基因推算方法相比，DIST(I)只需要一小部分计算资源，(Ii)对独立受试者具有相当的推算精度，(Iii)很容易适用于来自大型系谱数据的关联统计推算。因此，拟议的应用对于以下方面的总结结果的快速推算是有用的：(I)不相关受试者的研究，(A)不提供受试者水平的基因类型或(B)具有较大规模和(Ii)家庭关联研究。可用性和实施：在常用操作系统下构建的预编译可执行文件在http://code.google.com/p/dist/.上公开提供联系方式：dlee4@vcu.edu补充信息：补充数据可在BioInformation Online上获得。
Motivation: Genotype imputation methods are used to enhance the resolution of genome-wide association studies, and thus increase the detection rate for genetic signals. Although most studies report all univariate summary statistics, many of them limit the access to subject-level genotypes. Because such an access is required by all genotype imputation methods, it is helpful to develop methods that impute summary statistics without going through the interim step of imputing genotypes. Even when subject-level genotypes are available, due to the substantial computational cost of the typical genotype imputation, there is a need for faster imputation methods. Results: Direct Imputation of summary STatistics (DIST) imputes the summary statistics of untyped variants without first imputing their subject-level genotypes. This is achieved by (i) using the conditional expectation formula for multivariate normal variates and (ii) using the correlation structure from a relevant reference population. When compared with genotype imputation methods, DIST (i) requires only a fraction of their computational resources, (ii) has comparable imputation accuracy for independent subjects and (iii) is readily applicable to the imputation of association statistics coming from large pedigree data. Thus, the proposed application is useful for a fast imputation of summary results for (i) studies of unrelated subjects, which (a) do not provide subject-level genotypes or (b) have a large size and (ii) family association studies. Availability and implementation: Pre-compiled executables built under commonly used operating systems are publicly available at http://code.google.com/p/dist/. Contact: dlee4@vcu.edu Supplementary information: Supplementary data are available at Bioinformatics online.
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影响因子：
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影响因子：
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