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Updated: Jan 15, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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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
PubMed
Summary
This summary is machine-generated.

SVTopo visualizes complex structural variants using high-accuracy long reads. This tool aids in understanding genomic diversity and human health impacts of these rearrangements.

Keywords:
Complex SVGenome visualizationLong-read sequencingStructural variant

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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.