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Software evaluation demonstrates intuitive visualization of multi-breakpoint structural variants in human genomes, highlighting the functional impact of complex rearrangements.
Structural variants are genomic variants that impact at least 50 nucleotides and can play major roles in diversity and human health. Many structural variants are complex multi-breakpoint rearrangements that are difficult to comprehend with existing visualization tools. We present SVTopo, a tool to visualize complex structural variants with supporting evidence from high-accuracy long reads, in easily understood figures. We include examples of eleven categories of complex structural variants from seven human genomes. SVTopo shows breakpoint evidence in ways that aid reasoning about the impact of large, multi-breakpoint events such as inversions, translocations, and combinations of simpler structural variants.
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Belyeu et al. (2025) studied this question.
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