Name
GKS Starter Kit and real-world implementations
Description

Adopting GA4GH standards can feel daunting to newcomers, even when the standards themselves are mature. Implementers repeatedly tell us the hardest part is not the specification but the on-ramp: knowing where to start, having runnable examples, and being able to show colleagues that others have already succeeded.

We will introduce the GKS Starter Kit, an early-stage, lightweight Python library and collection of real-world implementation vignettes designed to let implementers spin up and demonstrate GA4GH Genomic Knowledge Standards (GKS) on a local machine in minutes. The Starter Kit covers the Variation Representation Specficiation (VRS), Categorical Variation Representation Specfication (Cat-VRS), and Variant Annotation Specification (VA-Spec) standards and is built around real, community-generated datasets rather than toy examples. The session will include a live demonstration of how to get started with real-world data from resources informing variant interpretation such as ClinVar, CIViC, BRCA Exchange, and MaveMD.

Because the Starter Kit is under active development, a central goal of this session is structured community feedback: we want implementers and prospective adopters in the room to tell us where the on-ramp is still too steep. The goal is to show how GKS solves real-world knowledge-representation problems using straightforward examples and tools. We expect strong interest from anyone building or maintaining variant-knowledge resources.

Date
Friday, October 2, 2026
Time
4:00 PM - 5:30 PM (SGT)
Session topic(s)
Genomic Knowledge Standards
Suggested level of familiarity
Level 1: No prior knowledge needed, anyone can participate and learn from the discussion