SwissGA4GH Workshop: Interoperability for genomic variants, practical use of GA4GH standards
Date: 3 September 2026
Time: 09:30 - 15:00 (CEST, UTC+2)
Location: Campus Biotech, Chemin des Mines 9, 1202 Geneva, Switzerland
Room: H4.02-A
Format: Hybrid, in person and online via Microsoft Teams
Registration: Free but mandatory
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.
For any questions about the workshop, please contact: anais.mottaz@hesge.ch
Speakers
- Michael Baudis (SIB & Universität Zürich)
- Worawich Phornsiricharoenphant (SIB & Universität Zürich)
- Anaïs Mottaz (SIB & HES-SO)
- Venkata Satagopam (University of Luxembourg, tentative)
- Hinri Kerstens (Princess Máxima Center, in person or remote, to be confirmed)
- Emidio Capriotti (University of Bologna, tentative)
Contributors
- Patrick Ruch (SIB & HES-SO)
- Melissa Cline (UC Santa Cruz Genomics Institute)
- Valérie Barbié (SIB)
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, Thai Reference Genome database), current adoption and interoperability |
| 12:00-13:30 | Lunch break | Lunch offered at the Campus Biotech cafeteria |
| 13:30-14:30 | Getting started | Documentation, implementation tools (e.g. VRS-Python), notebooks, recipes and other resources |
| 14:30-15:00 | Discussion | Current challenges, implementation complexity, advocacy and future directions |
Supported by swissuniversities through the Programme Open Science II SwissGA4GH
