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VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing.

Nature communications - 13 Aug 2024

Luo Can, Liu Yichen Henry, Zhou Xin Maizie

Abstract excerpt

Structural variants (SVs) significantly contribute to human genome diversity and play a crucial role in precision medicine. Although advancements in single-molecule long-read sequencing offer a groundbreaking resource for SV detection, identifying SV breakpoints and sequences accurately and robustly remains challenging. We introduce VolcanoSV, an innovative hybrid SV detection pipeline that utilizes both a...

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Diploidy
Genome, Human
Genomic Structural Variation
Genomics
Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Sequence Analysis, DNA

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PMID: 39138168
DOI: 10.1038/s41467-024-51282-0
PMCID: PMC11322167

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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