SVbyEye：一种用于表征全基因组组装之间结构变异的可视化工具。
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies.
作者信息
Porubsky David, Guitart Xavi, Yoo DongAhn, Dishuck Philip C, Harvey William T, Eichler Evan E
机构信息
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA United States.
Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
出版信息
Bioinformatics. 2025 Jun 6. doi: 10.1093/bioinformatics/btaf332.
MOTIVATION
We are now in the era of being able to routinely generate highly contiguous (near telomere-to-telomere) genome assemblies of human and nonhuman species. Complex structural variation and regions of rapid evolutionary turnover are being discovered for the first time. Thus, efficient and informative visualization tools are needed to evaluate and directly observe structural differences between two or more genomes.
RESULTS
We developed SVbyEye, an open-source R package to visualize and annotate sequence-to-sequence alignments along with various functionalities to process these alignments. The tool facilitates the characterization of complex structural variants in the context of sequence homology helping resolve the mechanisms underlying their formation.
AVAILABILITY
SVbyEye is available on GitHub (https://github.com/daewoooo/SVbyEye) and via Zenodo (https://doi.org/10.5281/zenodo.15303553).
SUPPLEMENTARY INFORMATION
Supplementary data are available at Bioinformatics online.
动机
我们现在正处于能够常规生成人类和非人类物种的高度连续（近乎端粒到端粒）基因组组装的时代。复杂的结构变异和快速进化更替的区域首次被发现。因此，需要高效且信息丰富的可视化工具来评估并直接观察两个或多个基因组之间的结构差异。
结果
我们开发了SVbyEye，这是一个开源的R包，用于可视化和注释序列到序列的比对，并具有处理这些比对的各种功能。该工具便于在序列同源性的背景下表征复杂的结构变异，有助于解析其形成的潜在机制。
可用性
SVbyEye可在GitHub（https://github.com/daewoooo/SVbyEye）和Zenodo（https://doi.org/10.5281/zenodo.15303553）上获取。
补充信息
补充数据可在《生物信息学》在线版获取。
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