SwissGA4GH Workshop: Interoperability for genomic variants, practical use of GA4GH standards
Date: 3 September 2026
Time: 09:30 - 15:00
Location: Campus Biotech, Geneva, Switzerland
Room: H4.02-A
This SwissGA4GH workshop will focus on the practical use of GA4GH standards to improve interoperability in genomic variant representation and federated discovery.
The session will address challenges arising from heterogeneous variant data across clinical, cohort, research, literature-derived and public resources. It will examine how standards such as VRS, Categorical VRS and Beacon can support consistent modelling, matching and discovery of variants across distributed infrastructures.
Through presentations and discussions, participants will explore practical examples of standard adoption, implementation challenges and federated discovery workflows. The workshop will conclude with a discussion on current barriers, open questions and future directions.
No prior GA4GH experience is required, the workshop is open to all interested participants.
Registration (free): register
For any questions about the workshop, please contact: anais.mottaz@hesge.ch
Speakers
- Michael Baudis
- Worawich Phornsiricharoenphant
- Anaïs Mottaz
- Patrick Ruch
- Venkata Satagopam
- Hinri Kerstens (in person or remote, to be confirmed)
- Emidio Capriotti (tentative)
Contributors
- Melissa Cline (remote, tentative)
- Valérie Barbié
Schedule (tentative)
| Time | Session | Description |
|---|---|---|
| 09:30-09:45 | Introduction and context | Scope of the workshop and interoperability challenges in genomic variant data |
| 09:45-11:00 | Variant representation | VRS and Categorical VRS, implementation across ClinVar, national platforms and literature, implementation maturity and emerging use cases (e.g. gene fusion) |
| 11:00-12:00 | Federated discovery | Beacon and query model, implementation examples (e.g. Progenetix Beacon), current adoption and interoperability |
| 12:00-13:30 | Lunch break | |
| 13:30-14:30 | Getting started | Documentation, VRS-Python, implementation recipes and other resources |
| 14:30-15:00 | Discussion | Current challenges, implementation complexity, advocacy and future directions |