Complex structural variant visualization with SVTopo

Abstract excerpt

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 fig...

Topics

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• Alleles
• Genetic Variation
• Genome, Human
• Genomic Structural Variation
• Genomics
• High-Throughput Nucleotide Sequencing
• Software
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

62ba4140-6b80-5215-b96b-e540254599fa

DOI

10.1101/2025.04.16.649185