​Matchmaker Exchange / Patient Archive

The Australian Genomics Patient Archive platform enables patient data management, collaborative diagnosis and knowledge exchange within Australia, and in conjunction with the Global Alliance for Genomics and Health (GA4GH) Matchmaker Exchange Initiative. Access to the platform is restricted to medical professionals and researchers under the Australian Genomics Health Alliance. To register for an account, please follow the link below.

Go to: mme.australiangenomics.org.au

A brief user guide for researchers/medical professionals is available here

Also see below an in–depth introduction into Patient Archive’s capabilities:

Australian Beacon

Australian Genomics is proud to announce its first registered Beacon!

The Beacon is split into two major categories, Germline and Somatic, with contributions from the Victorian Clinical Genetics Services (VCGS) and the International Cancer Genome Consortium (ICGC) 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 (NCI) and registered with the international Beacon Network.

Go to the Australian Genomics Beacon here: http://beacon.australiangenomics.org.au

For more information on how to contribute data to the Australian Genomics Beacon, please contact Dan Andrews at dan.andrews@anu.edu.au or Philip Wu philip.wu@anu.edu.au

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.

See more information here on Beacon and the Beacon Network.

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.