Chen Sui-Pi, Huang Guan-Hua
Stat Appl Genet Mol Biol. 2014 Jun;13(3):275-97. doi: 10.1515/sagmb-2012-0074.
This paper uses a Bayesian formulation of a clustering procedure to identify gene-gene interactions under case-control studies, called the Algorithm via Bayesian Clustering to Detect Epistasis (ABCDE). The ABCDE uses Dirichlet process mixtures to model SNP marker partitions, and uses the Gibbs weighted Chinese restaurant sampling to simulate posterior distributions of these partitions. Unlike the representative Bayesian epistasis detection algorithm BEAM, which partitions markers into three groups, the ABCDE can be evaluated at any given partition, regardless of the number of groups. This study also develops permutation tests to validate the disease association for SNP subsets identified by the ABCDE, which can yield results that are more robust to model specification and prior assumptions. This study examines the performance of the ABCDE and compares it with the BEAM using various simulated data and a schizophrenia SNP dataset.
本文采用一种聚类程序的贝叶斯公式来识别病例对照研究中的基因-基因相互作用,称为通过贝叶斯聚类检测上位性的算法(ABCDE)。ABCDE使用狄利克雷过程混合模型来对单核苷酸多态性(SNP)标记划分进行建模,并使用吉布斯加权中国餐馆抽样来模拟这些划分的后验分布。与将标记分为三组的代表性贝叶斯上位性检测算法BEAM不同,ABCDE可以在任何给定的划分下进行评估,而不受组数的限制。本研究还开发了置换检验,以验证ABCDE识别出的SNP子集与疾病的关联性, 这可以产生对模型设定和先验假设更稳健的结果。本研究考察了ABCDE的性能,并使用各种模拟数据和一个精神分裂症SNP数据集将其与BEAM进行了比较。