Application of qualifying variants for genomic analysis
Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Simon Boutry, Veronika Stadler, Sabine Oesterle, Jan Armida, David Hans-Ulrich Haerry, D. Sean Froese, Luregn Jan Schlapbach, Jacques Fellay
The paper introduces a framework for defining and reusing qualifying variants (QVs) in genomic analysis to improve transparency, reproducibility, and interoperability across pipelines.
Bioinformatics · Jan 21, 2026Peer-reviewedGenetic & Genomic Medicine