HiCancer: accurate and complete cancer genome phasing with Hi-C reads

文献类型： 外文期刊

第一作者： Pan, Weihua

作者： Pan, Weihua;Gong, Desheng;Sun, Da;Luo, Haohui

作者机构：

期刊名称：SCIENTIFIC REPORTS （ 影响因子：3.998； 五年影响因子：4.576 ）

ISSN： 2045-2322

年卷期： 2021 年 11 卷 1 期

页码：

收录情况： SCI

摘要： Due to the high complexity of cancer genome, it is too difficult to generate complete cancer genome map which contains the sequence of every DNA molecule until now. Nevertheless, phasing each chromosome in cancer genome into two haplotypes according to germline mutations provides a suboptimal solution to understand cancer genome. However, phasing cancer genome is also a challenging problem, due to the limit in experimental and computational technologies. Hi-C data is widely used in phasing in recent years due to its long-range linkage information and provides an opportunity for solving the problem of phasing cancer genome. The existing Hi-C based phasing methods can not be applied to cancer genome directly, because the somatic mutations in cancer genome such as somatic SNPs, copy number variations and structural variations greatly reduce the correctness and completeness. Here, we propose a new Hi-C based pipeline for phasing cancer genome called HiCancer. HiCancer solves different kinds of somatic mutations and variations, and take advantage of allelic copy number imbalance and linkage disequilibrium to improve the correctness and completeness of phasing. According to our experiments in K562 and KBM-7 cell lines, HiCancer is able to generate very high-quality chromosome-level haplotypes for cancer genome with only Hi-C data.

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