Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours.
Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours.
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DOI：
10.1186/s13059-017-1253-8
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发表时间：
2017-06-27
期刊：
影响因子：
12.3
通讯作者：
Fraser P
中科院分区：
文献类型：
--
作者：
Harewood L;Kishore K;Eldridge MD;Wingett S;Pearson D;Schoenfelder S;Collins VP;Fraser P
染色体重排发生在一般人群中的体质和体细胞在大多数癌症。平衡重排，如相互易位和倒位的检测是麻烦的，这在重排发挥诊断和预后作用的肿瘤学中特别有害。在这里，我们描述了使用Hi-C作为一种工具，用于检测原发性人类肿瘤样本中平衡和不平衡的染色体重排，并有可能将染色体断点定义为bp分辨率。此外，我们还显示，拷贝数谱也可以从相同的数据中获得，所有这些都比标准测序方法的成本低得多。本文的在线版本（doi：10.1186/s13059-017-1253-8）包含补充材料，可供授权用户使用。
Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly detrimental in oncology where rearrangements play diagnostic and prognostic roles. Here we describe the use of Hi-C as a tool for detection of both balanced and unbalanced chromosomal rearrangements in primary human tumour samples, with the potential to define chromosome breakpoints to bp resolution. In addition, we show copy number profiles can also be obtained from the same data, all at a significantly lower cost than standard sequencing approaches. The online version of this article (doi:10.1186/s13059-017-1253-8) contains supplementary material, which is available to authorized users.