swissgenomicsassociation/sga_qvss: SGA-QVSS-1.0.0
Description
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.
Files
swissgenomicsassociation/sga_qvss-v1.0.0.zip
Files
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Additional details
Related works
- Is supplement to
- Software: https://github.com/swissgenomicsassociation/sga_qvss/tree/v1.0.0 (URL)
Software
- Repository URL
- https://github.com/swissgenomicsassociation/sga_qvss