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Allele-Specific Quantification of Structural Variations in Cancer Genomes

机译:癌症基因组中结构变异的等位基因特异性定量

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One of the hallmarks of cancer genome is aneuploidy, which causes abnormal copy numbers of alleles. Structural variations (SVs) can further modify the ane-uploid cancer genomes into a mixture of rearranged genomic segments with extensive range of somatic copy number alterations (CNAs). Indeed, aneuploid cancer genomes have significantly higher rate of CNAs and SVs. However, although methods have been developed to identify SVs and allele-specific copy number of genome (ASCNG) separately, no existing algorithm can simultaneously analyze SVs and ASCNG. Such integrated approach is particularly important to fully understand the complexity of cancer genomes.
机译:癌基因组的标志之一是非整倍性,其引起等位基因的异常拷贝数。结构变异(SV)可以进一步将非整倍体癌症基因组修饰为重排的基因组片段的混合物,这些片段具有广泛的体细胞拷贝数变化(CNA)。实际上,非整倍性癌症基因组的CNA和SV比率显着更高。然而,尽管已经开发了分别识别SV和等位基因特异性基因组拷贝数(ASCNG)的方法,但是没有现有的算法可以同时分析SV和ASCNG。这种全面的方法对于充分理解癌症基因组的复杂性特别重要。

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