Article

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

2024-07-25

Abstract excerpt

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 true somatic SVs from artefacts...

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Literature Corpus work: 9deeaf61-a578-5f8e-a261-5d28d98420ce
DOI: 10.1101/2024.07.25.604944

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