novoBreak: local assembly for breakpoint detection in cancer genomes.

novoBreak: local assembly for breakpoint detection in cancer genomes.
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DOI:
10.1038/nmeth.4084
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发表时间:
2017-01
期刊:
影响因子:
48
通讯作者:
Chen K
Chen K
中科院分区:
生物学1区
文献类型:
--
作者:
Chong Z;Ruan J;Gao M;Zhou W;Chen T;Fan X;Ding L;Lee AY;Boutros P;Chen J;Chen K

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我们提出了novobbreak,一种新的全基因组局部组装算法,可以在全基因组测序数据中发现体细胞和种系结构变异断点。在ICGC-TCGA DREAM 8.5体细胞突变呼叫挑战和真实癌症基因组数据分析中,novobbreak一直优于现有算法,主要是因为更有效地利用了跨越断点的读取。novobbreak在识别短indel方面也表现出了很高的敏感性。源代码可从http://sourceforge.net/projects/novobreak/获得。
We present novoBreak, a novel genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole genome sequencing data. In the ICGC-TCGA DREAM 8.5 Somatic Mutation Calling Challenge and real cancer genome data analysis, novoBreak consistently outperformed existing algorithms due largely to more effective utilization of reads spanning breakpoints. NovoBreak also demonstrated great sensitivity in identifying short INDELs. The source code is available at http://sourceforge.net/projects/novobreak/.
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