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Robust Signature Discovery for Affymetrix GeneChip~® Cancer Classification

机译:Affymetrix GeneChip〜®癌症分类的强大特征发现

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Phenotype prediction is one of the central issues in genetics and medical sciences research. Due to the advent of high-throughput screening technologies, microarray-based cancer classification has become a standard procedure to identify cancer-related gene signatures. Since gene expression profiling in transcriptome is of high dimensionality, it is a challenging task to discover a biologically functional signature over different cell lines. In this article, we present an innovative framework for finding a small portion of discriminative genes for a specific disease phenotype classification by using information theory. The framework is a data-driven approach and considers feature relevance, redundancy, and interdependence in the context of feature pairs. Its effectiveness has been validated by using a brain cancer benchmark, where the gene expression profiling matrix is derived from Affymetrix Human Genome U95Av2 GeneChip~®. Three multivariate filters based on information theory have also been used for comparison. To show the strengths of the framework, three performance measures, two sets of enrichment analysis, and a stability index have been used in our experiments. The results show that the framework is robust and able to discover a gene signature having a high level of classification performance and being more statistically significant enriched.
机译:表型预测是遗传学和医学科学研究的中心问题之一。由于高通量筛选技术的出现,基于微阵列的癌症分类已成为识别与癌症相关的基因标记的标准程序。由于转录组中的基因表达谱具有高维度,因此在不同细胞系上发现生物学功能标记是一项艰巨的任务。在本文中,我们提出了一个创新的框架,该框架可通过使用信息论为特定疾病表型分类找到一小部分判别基因。该框架是一种数据驱动的方法,在功能对的上下文中考虑功能相关性,冗余性和相互依赖性。它的有效性已通过使用脑癌基准进行了验证,该基因表达谱矩阵来自Affymetrix人类基因组U95Av2GeneChip®。基于信息论的三个多元过滤器也已用于比较。为了展示该框架的优势,我们在实验中使用了三种性能指标,两组富集分析和一个稳定性指标。结果表明,该框架是鲁棒的,能够发现具有高分类性能并且在统计学上更显着丰富的基因签名。

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