This repository serves as a working space to capture code, ideas, discussion, and development efforts for building a cloud-based variant analysis environment leveraging GA4GH standards.

The initial focus is on integrating and analyzing BRCA Exchange variant data in a reproducible, standards-compliant manner. However, the broader goal is to design general-purpose infrastructure and tooling that supports scalable variant analysis across datasets.

• Integrate BRCA Exchange variant data using GA4GH GKS and other relevant standards.
• Enable interactive, cloud-based analysis and machine learning workflows.
• Develop interoperable metadata and tools using existing community standards (e.g., ERDERA).
• Support GA4GH API standards like DRS and TRS for discovery and workflow reproducibility.

We are currently in Phase 1, focused on infrastructure setup, data integration, and annotation pipeline reuse for BRCA variants. Future phases will expand support for additional datasets and contribute to GA4GH standards development.

• GA4GH VRS Python
• GKS Hackathon
• GKS Portal Discussion
• Variant Annotation Spec Discussion