Genetic & Genomic MedicineBioinformaticsPeer-reviewed
Application of qualifying variants for genomic analysis
Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul…·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.
DOI 10.1093/bioinformatics/btaf676