Article

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

2024-02-13

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: 05df28b9-67de-528d-a350-1e016169f200
DOI: 10.21203/rs.3.rs-3843810/v1

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