颜林林 (2022-11-20 22:18):
#paper doi:10.1093/bioinformatics/btac018 Bioinformatics, 2022, StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps. 这篇paper介绍了来自华盛顿大学Evan Eichler团队的一个小工具,它在基因组尺度上计算序列之间的一致性(或相似性),并以基因组浏览器上通常展示连锁不平衡(LD)的三角形方式,展示这些序列一致性关系。这几乎就只是一项日常分析工作中的普通任务,谈不上多大的创新性和重要意义。因此,作为一篇可以帮助其他人复用并快速实现类似功能的Application Note,作者将该功能封装成为snakemake模块,并且借用另一个发表于2018年的工具HiGlass,实现结果的交互式展示,允许快速进行不同分辨率的调节,倒是确实突出了实用性。
StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps
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Abstract:
SUMMARY: The visualization and analysis of genomic repeats is typically accomplished using dot plots; however, the emergence of telomere-to-telomere assemblies with multi-megabase repeats requires new visualization strategies. Here, we introduce StainedGlass, which can generate publication-quality figures and interactive visualizations that depict the identity and orientation of multi-megabase tandem repeat structures at a genome-wide scale. The tool can rapidly reveal higher-order structures and improve the inference of evolutionary history for some of the most complex regions of genomes.AVAILABILITY AND IMPLEMENTATION: StainedGlass is implemented using Snakemake and available open source under the MIT license at https://mrvollger.github.io/StainedGlass/.SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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