What is a Beacon?

Beacon is a global search engine developed by the Global Alliance for Genomics and Health (GA4GH), that any institute can implement to share genetic data.

It promotes collaboration through sharing of genetic variants involved in rare diseases.

Beacons play an important role in allowing researchers to discover other potential sources of genetic variation which otherwise would have been locked away and inaccessible due to confidentiality and patient privacy. Data owners can choose whether it’s appropriate to pursue a request for collaboration by getting the appropriate approvals from patients and thereby adhering to the rules defined by ethics.

How does it work?

Beacons enable the sharing of genetic data by acknowledging the existence of variants—without the need to divulge sensitive patient records—with a simple ‘Yes’ or ‘No’ response.

The Australian Genomics Beacon is implemented with a GA4GH server as the back-end, populated from scrambled Variant Call Formats (VCFs), and a Python Beacon as the front-end.

Australian Genomics Beacon

The Beacon is split into two major categories, Germline and Somatic, with contributions from the Victorian Clinical Genetics Services and the International Cancer Genome Consortium respectively, and further contributions planned for the future from Australian Genomics’ Flagships.

The Beacons are installed on cloud infrastructure hosted by Australia’s National Computational Infrastructure and registered with the international Beacon Network.