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swissgenomicsassociation/sga_qvss: SGA-QVSS-1.0.0

Authors: DylanLawless;

swissgenomicsassociation/sga_qvss: SGA-QVSS-1.0.0

Abstract

This release publishes version 1.0 of the Qualifying Variant Set Standard (QVSS), a normative standard issued by the Swiss Genomics Association. QVSS defines a minimal, interoperable representation of rule-based criteria used to determine whether records of genetic variation qualify under a declared genomic analysis context. It is designed to make qualifying variant criteria portable, auditable, reproducible, and reusable across genomic studies, pipelines, registries, and implementation environments. This release corresponds to: Version: 1.0 Standard identifier: SGA-QVSS-1.0 Year: 2026 The canonical versions of the standard are published by the Swiss Genomics Association: PDF: https://www.swissgenomicsassociation.ch/assets/release/sga_qvss/latest/sga_qvss_1.0.pdf HTML: https://www.swissgenomicsassociation.ch/assets/release/sga_qvss/latest/sga_qvss_1.0 This repository provides the source materials, schema, examples, fixtures, templates, and release snapshot for citation and long term archiving. For further reading see: Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Simon Boutry, Veronika Stadler, Sabine Österle, Jan Armida, David Haerry, D Sean Froese, Luregn J Schlapbach, Jacques Fellay, Application of qualifying variants for genomic analysis, Bioinformatics, Volume 42, Issue 2, February 2026, btaf676, https://doi.org/10.1093/bioinformatics/btaf676.

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