David Porubsky, Xavi Guitart, DongAhn Yoo, Philip C. Dishuck, William T. Harvey, Evan E. Eichler
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引用次数: 0
摘要
动机我们现在正处于能够常规生成高度连续(接近端粒到端粒)的人类和非人类物种基因组组装的时代。我们首次发现了复杂的结构变异和快速进化更替的区域。因此,我们需要高效且信息丰富的可视化工具来评估和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 软件包,用于可视化和注释序列到序列的比对以及处理 PAF 格式比对的各种功能。该工具有助于在序列同源性的背景下描述复杂的结构变异,帮助解决其形成的机制问题。可用性和实现SVbyEye可在https://github.com/daewoooo/SVbyEye。
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies
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 alignments in PAF format. The tool facilitates the characterization of complex structural variants in the context of sequence homology helping resolve the mechanisms underlying their formation.
Availability and implementation
SVbyEye is available at https://github.com/daewoooo/SVbyEye.