🚀 [Happening tomorrow] GA4GH Connect: Literature derived variant evidence: toward GA4GH compatible representation
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Beatrice Amos
Oct 8, 2025, 3:00:08 AM10/8/25
to GA4GH GKS Steering, ga4gh-discovery-leads, GA4GH Variation Representation, Product - Categorical Variation Representation Specification (Cat-VRS), GA4GH Variant Annotation, GA4GH Beacon, Michael Baudis, Anais Mottaz, Work Stream - Genomic Knowledge Standards (GKS)
Hi Everyone,
Just a quick reminder that our GA4GH Connect session: Literature derived variant evidence: toward GA4GH compatible representation, is happening TOMORROW, Thursday, 9 October, from 9:00-10:30 CEST, led by Anaïs Mottaz and Michael Baudis.
In this session, we will explore how literature-derived variant evidence can be better integrated with GA4GH standards to improve discoverability, representation, provenance, and supporting evidence. We’ll discuss challenges with variant extraction pipelines (including AI tools), normalisation into VRS and Cat-VRS, representation with VA-Spec, and the potential use of Beacon v2 to expose a normalised literature variant corpus.
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Just a quick reminder that our GA4GH Connect session: Literature derived variant evidence: toward GA4GH compatible representation, is happening TOMORROW, Thursday, 9 October, from 9:00-10:30 CEST, led by Anaïs Mottaz and Michael Baudis.
In this session, we will explore how literature-derived variant evidence can be better integrated with GA4GH standards to improve discoverability, representation, provenance, and supporting evidence. We’ll discuss challenges with variant extraction pipelines (including AI tools), normalisation into VRS and Cat-VRS, representation with VA-Spec, and the potential use of Beacon v2 to expose a normalised literature variant corpus.
Here's your quick access:
Link to Agenda
Link to Slide Deck
‼️ Important:
If you are joining virtually, please make sure you are registered. Once registered, you can access the Zoom link directly from the Connect page on the event website.
Looking forward to seeing you there.
Best,
Beatrice
Link to Slide Deck
‼️ Important:
If you are joining virtually, please make sure you are registered. Once registered, you can access the Zoom link directly from the Connect page on the event website.
Looking forward to seeing you there.
Best,
Beatrice
Beatrice Amos
Work Stream Manager
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