GA4GH Connect session follow up - GKS Work Stream Roadmap

[Beatrice Amos]

Dear Colleagues,

Thank you all for contributing to the GA4GH Connect session: GKS Work Stream Roadmap - what a productive and engaging discussion! A big thank you to Alex Wagner, Melissa Cline, Larry Babb and all the GKS product leads for an excellent session, and to all participants for their valuable contributions and engaging discussions. Your input made this a truly meaningful conversation - so great to see this Work Stream powering ahead.

For those who were unable to attend, the meeting summary and recording are available in the meeting agenda document. Please take a moment to review the meeting notes and let me know if anything needs to be updated or clarified.

📌 Key Takeaways:

🔶  VRS 2.0 is now released🎉, introducing structural enhancements and broader variation support, with a focus on adoption and implementer feedback.

🔶  The Sequence Annotation group is finalising a manuscript with key recommendations to improve interoperability and metadata quality.

🔶  Documentation improvements are a top priority across all product groups (VRS, Cat-VRS, VA Spec), along with clearer implementer guidance and tooling support.

Meeting Summary:
This was a working meeting for the GKS Work Stream to outline its priorities for the next six months. There were several key points mentioned, including increasing implementation efforts and a revisiting of its product development principles. Fantasitic progress was reported across major products like VRS 2.0, Cat-VRS, and the VA-Spec, all of which are nearing or undergoing GA4GH Product approval. The Sequence Annotation group presented 7 interoperability recommendations, while community engagement and improved documentation emerged as cross-cutting priorities.

📌 Action items:

Timeframe	Product/ Group	Milestone/Action	Lead(s) / Contributors
April 2025	VA-spec	Close community review of VA Spec v1.0 and initiate product approval process	Matt Brush, VA WG
April-May 2025	Cat-VRS	Finalise documentation & test suite, submit for GA4GH Product approval	Daniel, Brendan
April-May 2025	Sequence Annotation	Submit manuscript to Database, prepare GA4GH product proposal if needed	Evan Christensen
April-June 2025	VRS 2.0	Promote adoption with “VRS-in-a-box”, improve tooling, initiate use case pilots	Larry Babb, Alex Wagner
May-June 2025	VA Spec	Define and release new profiles (e.g., ACMG v4, Cancer Hotspots)	VA WG, community contributors
May-July 2025	All Products	Improve "getting started" materials and cross-product documentation	Kori Kuzma, All WG participants
Ongoing (2025)	GKS Work Stream	Collect implementer use cases, align with Driver Project needs	All Co-Leads (Alex, Melissa, Larry)

I'll be sharing follow-ups soon, so please stay tuned. If there's anything we missed or anything you'd like to add, feel free to reach out!

Thanks again for your engagement and contributions - let’s keep the momentum going! GKS - what an incredible team!

Best,
Beatrice

--

Beatrice Amos

Work Stream Manager

beatri...@ga4gh.org

ba...@sanger.ac.uk

Please note my upcoming Out of Office days:
March 31st -  April 21st 

https://www.ga4gh.org/what-we-do/calendar/