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利用 aCGH 数据中的连续 CNV 值识别重要的区域遗传变异。

Identification of significant regional genetic variations using continuous CNV values in aCGH data.

机构信息

Oral Cancer Research Institute, Yonsei University College of Dentistry, Seoul 120-752, Korea.

出版信息

Genomics. 2009 Nov;94(5):317-23. doi: 10.1016/j.ygeno.2009.08.006. Epub 2009 Aug 19.

Abstract

Array comparative genomic hybridization (aCGH) provides a technique to survey the human genome for chromosomal aberrations in disease. The identification of genomic regions with aberrations may clarify the initiation and progression of cancer, improve diagnostic and prognostic accuracy, and guide therapy. The analysis of variance (ANOVA) model is widely used to detect differentially expressed genes after accounting for common sources of variation in microarray analysis. In this study, we propose a method, shifted ANOVA, to detect significantly altered regions. This method, based on the standard ANOVA, analyzes changes in copy number variation for regions. The selected regions have the group effect only, but no effect within samples and no interactive effects. The performance of the proposed method is evaluated from the homogeneity and classification accuracies of the selected regions. Shifted ANOVA may identify new candidate genes neighboring known because it detects significantly altered chromosomal regions, rather than independent probes.

摘要

阵列比较基因组杂交 (aCGH) 提供了一种用于检测疾病中染色体异常的人类基因组技术。对具有异常的基因组区域的识别可以阐明癌症的发生和进展,提高诊断和预后的准确性,并指导治疗。方差分析 (ANOVA) 模型广泛用于在微阵列分析中考虑常见的变异源后检测差异表达基因。在这项研究中,我们提出了一种方法,移位 ANOVA,用于检测显著改变的区域。该方法基于标准的 ANOVA,分析了区域中拷贝数变异的变化。所选区域仅具有组效应,而没有样本内效应和相互作用效应。从所选区域的同质性和分类准确性评估了所提出方法的性能。移位 ANOVA 可能会识别出已知的附近的新候选基因,因为它检测到的是显著改变的染色体区域,而不是独立的探针。

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