Shaked Gideon, Zhang Haihan, Zhang Zhaolin, Zhou Jiayu, Gudjonsson Johann E, Elder James T, Patrick Matthew T, Tsoi Lam C
Department of Computational Medicine and Bioinformatics, Michigan Medicine, 1500 E Medical Center Dr, Ann Arbor, MI 48109, United States.
Department of Biostatistics, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, United States.
NAR Genom Bioinform. 2025 Jul 19;7(3):lqaf098. doi: 10.1093/nargab/lqaf098. eCollection 2025 Sep.
Gene regulation is intricately influenced by the three-dimensional organization of the genome. In particular, chromatin can exist in loop structures that enable long-range regulatory interactions. By utilizing chromosome conformation capture techniques such as Hi-C, valuable information regarding the organization of these loop structures in 3D space can be obtained. Although functional/feature enrichment is now a common downstream analysis for various genomic platforms to provide biological context, tools specifically designed for high-throughput assays that capture chromosome conformation remain relatively limited. Here, we present Loopsim, a command-line application that performs enrichment analysis on Hi-C loop profiles against user-defined regions (available on GitHub at https://github.com/CutaneousBioinf/Loopsim). Loopsim efficiently simulates a background distribution using a distinctive sampling approach that considers loop size, intervals, loop-loop distances, and structure; it then computes statistics based on the empirical null distribution.
基因调控受到基因组三维组织的复杂影响。特别是,染色质可以以环状结构存在,这种结构能够实现长程调控相互作用。通过利用诸如Hi-C等染色体构象捕获技术,可以获得有关这些环状结构在三维空间中组织的有价值信息。尽管功能/特征富集现在是各种基因组平台常见的下游分析,以提供生物学背景,但专门为捕获染色体构象的高通量检测设计的工具仍然相对有限。在这里,我们展示了Loopsim,这是一个命令行应用程序,它针对用户定义的区域对Hi-C环状图谱进行富集分析(可在GitHub上获取,网址为https://github.com/CutaneousBioinf/Loopsim)。Loopsim使用一种独特的采样方法有效地模拟背景分布,该方法考虑了环的大小、间隔、环与环之间的距离以及结构;然后根据经验零分布计算统计数据。