🚀 [Happening tomorrow] GA4GH Connect: Variant Representation Alignment: Bridging VRS, VCF, HGVS, SPDI, and more

[Beatrice Amos]

Hi Everyone,

Just a quick reminder that our GA4GH Connect session: Variant Representation Alignment: Bridging VRS, VCF, HGVS, SPDI, and more!, is happening TOMORROW, Thursday, 9 October, from 11:00-12:30 CEST, led by Alex Wagner, Larry Babb, and Melissa Cline.

In this session, we will be discussing how to align variant representation standards across GA4GH, with a focus on identifying challenges, opportunities, and strategies for fostering interoperability between VRS, VCF, HGVS, SPDI, and the cytogenomics community.

Link to agenda:
https://docs.google.com/document/d/1SygR_jgUTVnqgQm_HYntunZqDg926XJYHenHHY0U8qg

Room: K3+K4 (Floor 3)

‼️ Important:

If you are joining virtually, please make sure you are registered. Once registered, you will be able to access the Zoom link directly from the Connect page on the event website.

Registration link

1. Quick Background Reading

Take a look at the NHGRI FAIR Data Workshop preprint: Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem: https://arxiv.org/abs/2508.13498 (PDF: https://arxiv.org/pdf/2508.13498)
Focus especially on page 10/11 (the Variant Identifiers section) for a read into registered, computed, and nomenclature-based identifiers.
________

2. Breakout Discussion Questions

We'll be splitting into breakout groups for deeper discussions. Here are some starter questions to think about:

• What challenges do you face in variant interoperability day-to-day?
• Which formats/standards do you typically use (VRS, VCF, HGVS, SPDI, ISCN, Star Alleles, GL strings, etc.)?
• Where do you find limitations or ambiguities?
• What strengths do you see in the formats you use?

Looking forward to seeing you there.

Best,
Beatrice

--

Beatrice Amos

Work Stream Manager

beatri...@ga4gh.org

ba...@sanger.ac.uk

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