SwissGA4GH Workshop: Interoperability for genomic variants, practical use of GA4GH standards
Geneva, 3 September 2026, Campus Biotech, 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 v2 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.
Speakers
- Michael Baudis
- Anaïs Mottaz
- Patrick Ruch
- Hinri Kerstens
- Venkata Satagopam
- Emidio Capriotti
Schedule
| Time | Session | Description |
|---|---|---|
| 09:30-09:45 | Introduction and context | Scope of the workshop and interoperability challenges in genomic variant data. |
| 09:45-10:30 | GA4GH standards for variant representation | Introduction to GA4GH standards for variant representation, with a focus on VRS and Categorical VRS. |
| 10:30-11:30 | Practical perspectives on variant representation | Examples of VRS use in national genomic platforms, public variant resources such as ClinVar, literature-derived variant standardisation efforts and challenges, and VRS-Python. |
| 11:30-12:00 | From observed variants to interpretation and reporting | Clinical bioinformatics perspectives on connecting observed variants to interpretation and reporting workflows. |
| 12:00-13:30 | Lunch break | |
| 13:30-14:15 | Federated discovery | Introduction to the GA4GH Discovery Work Stream and the Beacon protocol, including use for federated discovery across distributed resources. |
| 14:15-14:45 | Implementation perspectives | Implementation experiences from deploying GA4GH standards in practice. |
| 14:45-15:00 | Wrap-up and open discussion | Key messages, open questions and future directions. |