Article

Application of qualifying variants for genomic analysis

2025-05-11

Abstract excerpt

<h4>Motivation</h4> Qualifying variants (QVs) are genomic alterations selected by defined criteria within analysis pipelines. Although crucial for both research and clinical diagnostics, QVs are often seen as simple filters rather than dynamic elements that influence the entire workflow. In practice these rules are embedded within pipelines, which hinders transparency, audit, and reuse across tools. A unified, po...

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Literature Corpus work: 47c3e9b6-6a65-5294-b8f8-b5c8ab6239d0
DOI: 10.1101/2025.05.09.25324975

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