Federated Analysis for Germline Variant Interpretation in Cancer Genomics

Explore a comprehensive invited presentation from the 2022 Cancer Genomics Consortium Annual Meeting focusing on federated analysis for germline variant interpretation. Delve into the impact of genetics on cancer susceptibility and address the widespread issue of Variants of Uncertain Significance (VUS). Examine evidence-based VUS interpretation methods and explore privacy-preserving data sharing through federated analysis. Learn about federated allele frequency estimation and RNAseq analysis in pediatric cancer. Discover the four vital components for federated analysis, including container and workflow technologies, workflow security challenges, data specifications and standards, and data sharing policy compliance. Gain insights into the federated analysis of BioBank Japan data and understand how these approaches can advance cancer genomics and personalized medicine.

Intro
Genetics can have a strong impact on cancer susceptibility
Issue: Widespread Variants of Uncertain Significance (VUS)
Evidence for VUS Interpretation
What about data sharing?
Privacy-preserving data sharing through federated analysis
Federated Allele Frequency Estimation
Federated RNAseq Analysis in Pediatric Cancer
Four Vital Components for Federated Analysis
Technology: Containers and Workflows
Challenge: Demonstrating workflow security
Data Specifications and Standards
Data Sharing Policy Compliance
Federated analysis of BioBank Japan Data