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Updated: Jun 16, 2026

Mapping Mammalian 3D Genome Interactions with Micro-C-XL
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VACmap:一个准确的长读对齐器,用于解开复杂的基因组重新排列

Hongyu Ding1, Fritz J Sedlazeck2,3,4, Christos Proukakis5

  • 1Institute of Science and Technology for Brain-Inspired Intelligence and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, China.

Nature communications
|January 6, 2026
PubMed
概括

一个新的非线性绘图工具VACmap显著提高了复杂的遗传变异,如重复和反转的检测. 这一进步增强了基因组分析和各种遗传疾病的临床诊断.

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Homologous Recombination

The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Overview
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Long-patch Base Excision Repair

Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.