Pungpapong Vitara, Wang Libo, Lin Yanzhu, Zhang Dabao, Zhang Min
Department of Statistics, Purdue University, West Lafayette, IN 47907, USA.
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S5. doi: 10.1186/1753-6561-5-S9-S5.
Next-generation sequencing technologies enable us to explore rare functional variants. However, most current statistical techniques are too underpowered to capture signals of rare variants in genome-wide association studies. We propose a supervised coalescing of single-nucleotide polymorphisms to obtain gene-based markers that can stably reveal possible genetic effects related to rare alleles. We use a newly developed empirical Bayes variable selection algorithm to identify associations between studied traits and genetic markers. Using our novel method, we analyzed the three continuous phenotypes in the GAW17 data set across 200 replicates, with intriguing results.
新一代测序技术使我们能够探索罕见的功能变异。然而,目前大多数统计技术的效能不足,无法在全基因组关联研究中捕捉罕见变异的信号。我们提出一种单核苷酸多态性的监督合并方法,以获得基于基因的标记,这些标记能够稳定地揭示与罕见等位基因相关的可能遗传效应。我们使用一种新开发的经验贝叶斯变量选择算法来识别研究性状与遗传标记之间的关联。使用我们的新方法,我们对GAW17数据集中的三个连续表型进行了200次重复分析,结果令人感兴趣。