A gene-based test of association through an orthogonal decomposition of genotype scores
A gene-based test of association through an orthogonal decomposition of genotype scores
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DOI：
10.1007/s00439-017-1839-y
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发表时间：
2017-10-01
期刊：
影响因子：
5.3
通讯作者：
Wang, Kai
中科院分区：
文献类型：
--
作者：
Chen, Zhongxue;Wang, Kai
负荷检验和序列核关联检验（SKAT）是检测与罕见变异关联的两种常用方法。作为两个不同的关联信息源，它们被自适应地结合起来，形成一个最佳的SKAT（SKAT-O）方法的最佳功率。我们表明，负担测试的一部分，而不是独立的SKAT。我们引入了一个新的检验统计量，它是负担统计量和一个渐近独立于负担统计量的统计量之和。通过广泛的模拟研究和遗传分析研讨会17数据集和高眼压治疗研究数据的应用，证明了这种新的检验统计量的性能。
The burden test and the sequence kernel association test (SKAT) are two popular methods for detecting association with rare variants. Treated as two different sources of association information, they are adaptively combined to form an optimal SKAT (SKAT-O) method for optimal power. We show that the burden test is part of rather than independent of the SKAT. We introduce a new test statistic that is the sum of the burden statistic and a statistic asymptotically independent of the burden statistic. The performance of this new test statistic is demonstrated through extensive simulation studies and applications to a Genetic Analysis Workshop 17 data set and the Ocular Hypertension Treatment Study data.