MaveDB × GA4GH GKS Vignettes

Real-world walk-throughs of how MaveDB uses the GA4GH Genomic Knowledge Standards to solve core problems in sharing multiplexed assay of variant effect (MAVE) data.

These are drafted for contribution to the GA4GH GKS Starter Kit; this site is an internal preview. Each vignette is a real implementation — the problem, the data, the tools, and what GKS unlocks — written to be forwardable to a teammate or to leadership.

The vignettes

• Giving every MAVE variant a precise, computable identity with VRS — mapping every variant into VRS 2.0 as MaveDB's canonical representation. (VRS · production)
• Annotating a variant once, across every score set that measured it — the VRS digest as a harmonization key. (VRS · pilot)
• Carrying a measured variant across every molecular level with Cat-VRS — a measured variant as a category over its equivalents. (Cat-VRS · proposal)
• Sharing MAVE functional evidence as computable statements with VA-Spec — study results, functional-impact statements, and pathogenicity statements. (VA-Spec · production)

These thread one connected story: the same variants flow from VRS identity, through harmonization and categorization, into VA-Spec evidence.