Driving oncogenomic and CNV reference resources through Beacon
Data Discovery :: Data Sharing :: Analysis Support
Cancer data in Genomic Beacons at ELIXIR All Hands - Thessaloniki June 2025
Workshop Summary¶
Across Europe, several large-scale projects and national initiatives are embracing the Beacon V2 standard, actively contributing to its implementation and evolution. Among these efforts is the Genomic Data Initiative (GDI), a prominent international project involving numerous ELIXIR institutes. This collaboration underscores the growing adoption of genomic beacons beyond their initial purpose in Beacon V1—facilitating genomic variant discovery for rare diseases—towards addressing a broader spectrum of genetic data use cases.
Notably, new use cases such as cancer genetics are emerging, introducing unique challenges and expanding the scope of Beacon V2 through richer metadata queries or the support of copy number variation (CNV) and complex variants. Refined specifications need to accommodate diverse requirements, reflecting the dynamic nature of research and clinical genomics in different domains.
This workshop will delve into the practical insights gained from implementing Beacon V2 in the context of cancer genetics. Together, we will explore the obstacles encountered, discuss strategies to overcome them, and identify pathways to enhance the utility of genomic beacons in this field. By fostering collaboration and aligning on shared outcomes for patients and researchers, we aim to unlock the full potential of Beacon V2 for cancer genetics, ensuring its impactful contribution to advancing precision medicine and genomic research.