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Finding exclusively deleted or amplified genomic areas in lung adenocarcinomas using a novel chromosomal pattern analysis

机译:使用新型染色体模式分析发现肺腺癌中专门缺失或扩增的基因组区域

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摘要

BackgroundGenomic copy number alteration (CNA) that are recurrent across multiple samples often harbor critical genes that can drive either the initiation or the progression of cancer disease. Up to now, most researchers investigating recurrent CNAs consider separately the marginal frequencies for copy gain or loss and select the areas of interest based on arbitrary cut-off thresholds of these frequencies. In practice, these analyses ignore the interdependencies between the propensity of being deleted or amplified for a clone. In this context, a joint analysis of the copy number changes across tumor samples may bring new insights about patterns of recurrent CNAs.
机译:背景技术在多个样本中反复出现的基因组拷贝数改变(CNA)通常带有关键基因,这些关键基因可以驱动癌症疾病的发生或发展。到目前为止,大多数研究循环CNA的研究人员分别考虑复制增益或丢失的边际频率,并根据这些频率的任意截止阈值选择感兴趣的区域。实际上,这些分析忽略了克隆被删除或扩增的倾向之间的相互依赖性。在这种情况下,对肿瘤样本中拷贝数变化的联合分析可能会带来有关复发性CNA模式的新见解。

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