Poster Number
25
Poster Title
Collaborative, Standards-Driven BRCA Variant Analysis in the Cloud with AI-Powered Tools
Authors
David Steinberg (Camber)
Abstract
As genomic datasets grow in scale and complexity, researchers need tools that are not only interoperable and cloud-ready but also intuitive to use. A collaboration between the UCSC Genomics Institute and Camber is building a standards-based platform to enable scalable variant annotation and analysis of BRCA Exchange data using GA4GH products such as GKS, TRS, and DRS. Hosted in the Camber cloud environment, the platform supports reproducible machine learning workflows and harmonized access to variant data across institutions. A novel AI-powered agent is being developed to assist users in querying and interpreting complex genomic datasets through natural language, making advanced analysis more accessible. As part of the GA4GH Implementation Forum, the project seeks broad community input to ensure that the platform evolves into a responsible, useful, and cloud-agnostic solution aligned with real-world needs.
Digital Poster