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A Bayesian Analysis for Identifying DNA Copy Number Variations Using a Compound Poisson Process

机译:使用复合泊松过程识别DNA拷贝数变异的贝叶斯分析

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摘要

To study chromosomal aberrations that may lead to cancer formation or genetic diseases, the array-based Comparative Genomic Hybridization (aCGH) technique is often used for detecting DNA copy number variants (CNVs). Various methods have been developed for gaining CNVs information based on aCGH data. However, most of these methods make use of the log-intensity ratios in aCGH data without taking advantage of other information such as the DNA probe (e.g., biomarker) positions/distances contained in the data. Motivated by the specific features of aCGH data, we developed a novel method that takes into account the estimation of a change point or locus of the CNV in aCGH data with its associated biomarker position on the chromosome using a compound Poisson process. We used a Bayesian approach to derive the posterior probability for the estimation of the CNV locus. To detect loci of multiple CNVs in the data, a sliding window process combined with our derived Bayesian posterior probability was proposed. To evaluate the performance of the method in the estimation of the CNV locus, we first performed simulation studies. Finally, we applied our approach to real data from aCGH experiments, demonstrating its applicability.
机译:为了研究可能导致癌症形成或遗传疾病的染色体畸变,基于阵列的比较基因组杂交(aCGH)技术通常用于检测DNA拷贝数变异(CNV)。已经开发了用于基于aCGH数据获得CNV信息的各种方法。然而,这些方法中的大多数都利用aCGH数据中的对数强度比,而不利用其他信息,例如数据中包含的DNA探针(例如生物标记)的位置/距离。基于aCGH数据的特定特征,我们开发了一种新颖的方法,该方法考虑了使用复合Poisson程序估算aCGH数据中CNV的变化点或位点及其在染色体上的相关生物标记位置。我们使用贝叶斯方法得出CNV基因座估计的后验概率。为了检测数据中多个CNV的位点,提出了结合我们导出的贝叶斯后验概率的滑动窗口过程。为了评估该方法在CNV基因座估计中的性能,我们首先进行了仿真研究。最后,我们将我们的方法应用于来自aCGH实验的真实数据,证明了其适用性。

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