AI Article Synopsis
- The mammalian genome's organization within the nucleus has been significantly clarified by Hi-C technology, enhancing our understanding of the 3D chromatin structure.
- Recent advancements have allowed Hi-C to address complex genome analysis challenges like genome assembly and structural variation detection, particularly in cancer genomics.
- The review also highlights new bioinformatics tools that leverage Hi-C for studying genomic rearrangements and the potential of single-cell Hi-C to explore cancer genome heterogeneity.
Article Abstract
The mammalian genome is highly packed into the nucleus. Over the past decade, the development of Hi-C has contributed significantly to our understanding of the three-dimensional (3D) chromatin structure, uncovering the principles and functions of higher-order chromatin organizations. Recent studies have repositioned its property in spatial proximity measurement to address challenging problems in genome analyses including genome assembly, haplotype phasing, and the detection of genomic rearrangements. In particular, the power of Hi-C in detecting large-scale structural variations (SVs) in the cancer genome has been demonstrated, which is challenging to be addressed solely with short-read-based whole-genome sequencing analyses. In this review, we first provide a comprehensive view of Hi-C as an intuitive and effective SV detection tool. Then, we introduce recently developed bioinformatics tools utilizing Hi-C to investigate genomic rearrangements. Finally, we discuss the potential application of single-cell Hi-C to address the heterogeneity of genomic rearrangements and sub-population identification in the cancer genome.
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| http://dx.doi.org/10.1016/j.semcdb.2021.04.024 | DOI Listing |
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