GA4GH VRS Meeting follow up

[Beatrice Amos]

Dear Colleagues,

Thank you for joining the GA4GH Variation Representation (VRS) meeting earlier today. For those who were unable to attend, the meeting minutes, and recording can be found in the meeting agenda document.

Meeting summary:

In today's meeting, we discussed a new VRS-based model to represent intronic variants by introducing “aligned sequence” classes (Allele, Location, Reference) built atop alignment blocks that map between a base sequence (e.g. genome) and an aligned sequence (e.g. transcript or protein). 

Key technical points included how to encode orientation (borrowing from traversal blocks), support multi-mapping liftover scenarios (e.g. VNTRs), and whether to capture provenance (alignment algorithms/parameters) or simply store final alignment results. 

There was broad agreement on the need for a parallel aligned-sequence framework, but further discussion is needed on the boundary between core VRS objects and downstream annotations for non-existent (“imaginary”) sequence contexts.

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Did you know we have a Slack workspace?
It’s a great way to browse conversations and find channels related to your interests. 
Join here.

We have a Slack #gks-variant_representation channel where the conversation is being continued - feel free to contribute here.

Do you know about the GA4GH-wide calendar? 

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Our next VRS meeting will be on July 2nd.

See you then.😊

Best,
Beatrice

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Beatrice Amos

Work Stream Manager

beatri...@ga4gh.org

ba...@sanger.ac.uk

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