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IDENTIFICATION OF INSTANCE-SPECIFIC SOMATIC GENOME ALTERATIONS WITH FUNCTIONAL IMPACT

机译:识别具有功能影响的特定实例的体细胞基因组改变

摘要

The present application provides methods for the identification of somatic genome alterations with functional impact in the genome of a tumor. In several embodiments, the methods comprise generating a bipartite causal Bayesian network with maximal posterior probability including causal edges pointing from genes including somatic mutations and somatic copy number alterations in the genome of the tumor to genes having differential expression in the tumor. The methods can be used, for example, to identify driver somatic genome alterations in the genome of a tumor.
机译:本申请提供了用于鉴定在肿瘤基因组中具有功能影响的体细胞基因组改变的方法。在一些实施方案中,该方法包括产生具有最大后验概率的二分因果贝叶斯网络,该因果贝叶斯网络包括因果边缘,该因果边缘从包括肿瘤基因组中的体细胞突变和体细胞拷贝数改变的基因指向在肿瘤中具有差异表达的基因。所述方法可用于例如鉴定肿瘤基因组中的驱动体细胞基因组改变。

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