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Article

Application of qualifying variants for genomic analysis.

Bioinformatics (Oxford, England) - 3 Feb 2026

Lawless Dylan, Saadat Ali, Oumelloul Mariam Ait, Boutry Simon, Stadler Veronika, Österle Sabine, Armida Jan, Haerry David, Froese D Sean, Schlapbach Luregn J, Fellay Jacques

Abstract excerpt

MOTIVATION: 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, portable...

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PMID: 41570118
DOI: 10.1093/bioinformatics/btaf676
PMCID: PMC12926777

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