Article

Machine learning-based prediction of human structural variation and characterization of associated sequence determinants

2025-12-12

Abstract excerpt

<h4>ABSTRACT</h4> Structural variants (SVs) represent a major source of genetic diversity and play key roles in human disease and evolution. Yet, the extent to which local sequence context shapes the likelihood of structural variant formation remains poorly quantified. Here, we develop machine learning models to predict the occurrence of SVs across the human genome and characterize genomic determinants associated...

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Literature Corpus work: 11bbe531-694d-5e08-aeb4-b22290534f01
DOI: 10.64898/2025.12.09.693295

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