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SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencing

2024-08-21

Abstract excerpt

<title>Abstract</title> <p>Accurate detection of somatic structural variants (SVs) and copy number aberrations (SCNAs) is critical to inform the diagnosis and treatment of human cancers. Here, we describe SAVANA, a computationally efficient algorithm designed for the joint analysis of somatic SVs, SCNAs, tumour purity and ploidy using long-read sequencing data. SAVANA relies on machine learning to distinguish tru...

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Literature Corpus work: 691df63e-8f02-5f82-a703-2c68053b444b
DOI: 10.21203/rs.3.rs-4870639/v1

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