Name
Capturing cancer genomics data attributes in Beacon v2.0
Description

Worldwide, several cancer research centres are embracing the Beacon v2.0 standard, actively contributing to its implementation and evolution. The adoption of genomic beacons in the cancer genomics field typically includes functionalities and meta data types that were not included in the initial purpose in Beacon v1.0, which was focussed on facilitating rare genomic variant discovery for clinical genetics. Cancer includes a broader spectrum of information regarding phenotypes, matched samples, complex genetic variants, and clinical interventions (time lines).

Capturing cancer genomics data attributes in Beacon v2.0 Worldwide, several cancer research centres are embracing the Beacon v2.0 standard, actively contributing to its implementation and evolution. The adoption of genomic beacons in the cancer genomics field typically includes functionalities and meta data types that were not included in the initial purpose in Beacon v1.0, which was focussed on facilitating rare genomic variant discovery for clinical genetics. Cancer includes a broader spectrum of information regarding phenotypes, matched samples, complex genetic variants, and clinical interventions (time lines). Cancer genetics is a relatively new use case in Beacon v2.0 and introduces unique challenges, requiring rich clinical metadata queries. Refined and additional specifications will need to be implemented (and agreed upon) to accommodate these diverse requirements, reflecting the dynamic nature of cancer genomics research. This working session will collect issues or insights gained from mapping cancerdata to the BeaconV2 model when implementing BeaconV2 in the context of cancer genomics. Together, we will explore the obstacles encountered, discuss applied strategies to overcome them, and finding common ground in representing the data attributes in Beacon in a standardised manner.

This working session will collect issues or insights gained from mapping cancerdata to the BeaconV2 model when implementing BeaconV2 in the context of cancer genomics. Together, we will explore the obstacles encountered, discuss applied strategies to overcome them, and finding common ground in representing the data attributes in Beacon in a standardised manner.

Date
Thursday, October 9, 2025
Time
11:00 AM - 12:30 PM (CEST)
Session type
Working session: collaborative work toward a specific goal or consensus
Session topic(s)
Clinical & Phenotypic Data Capture, Cancer, GA4GH Implementation Forum
Suggested level of familiarity
Level 3: Prior experience or relevant insights to share with the group