Published June 5, 2026 | Version v1.0.0

swissgenomicsassociation/sga_qvss: SGA-QVSS-1.0.0

  • 1. Switzerland Omics, EPFL, UZH, KISPI

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.

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