Related Experiment Video
Updated: Jan 15, 2026
04:52
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
1.3K
Complex structural variant visualization with SVTopo
Jonathan R Belyeu1, William J Rowell2, Juniper A Lake2
1Computational Biology, PacBio, 305 O'Brien Drive, Menlo Park, CA, 94025, USA. jbelyeu@pacb.com.
BMC Genomics
|October 9, 2025
Summary
SVTopo visualizes complex structural variants using high-accuracy long reads. This tool aids in understanding genomic diversity and human health impacts of these rearrangements.
Area of Science:
- Genomics
- Bioinformatics
- Human Genetics
Background:
- Structural variants (SVs) significantly impact human diversity and health.
- Existing visualization tools struggle with complex SVs like inverted sequences or multiple breakends.
Purpose of the Study:
- To introduce SVTopo, a novel tool for visualizing complex germline structural variants.
- To facilitate the interpretation of SVs using high-accuracy long-read sequencing data.
Main Methods:
- Development of SVTopo software for structural variant visualization.
- Utilized high-accuracy long reads to support variant evidence.
- Analysis of 101 complex structural variants from seven human genomes.
Main Results:
- SVTopo generates easily understandable figures for complex SVs.
- Demonstrated a broad spectrum of genomic rearrangements.
- Showcased the prevalence of complex structural variants in human genomes.
Conclusions:
- SVTopo enhances reasoning about multi-breakpoint rearrangements and their effects.
- Visualizations aid in understanding the impact of structural variation on genes and regulatory regions.
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