New systems established for easier management and sharing of human genome data

The project laid the necessary groundwork required for Zero Childhood Cancer (ZERO) and University of Melbourne Centre for Cancer Research (UMCCR) to establish systems for easier management and sharing of their human genome data holdings, and to also ensure that other Australian providers and institutions can easily deploy the same solution in the future.

Australian BioCommons brought together key partners, ZERO, UMCCR, Australian Access Federation and Melbourne Bioinformatics to explore the establishment of Gen3 technology in Australia. Gen3, an open source software suite, allows data to be received, managed, described, quality controlled, and shared with authorised or authenticated individuals, with data objects able to be stored over any number of private or public clouds. Gen3 has been used to underpin several very large international genomic datasets that collectively house and describe data derived from hundreds of thousands of human samples. 

The investigations by the national team discovered the Gen3 technology could be used to support virtual cohort assembly, create user facing (public) interfaces to enable querying of data held in each genome repository, and to ensure that common data dictionaries and agreed minimum information standards can be applied across different genome repositories. It also allowed for interfacing with secure S3 sequence file data storage used by each genomics data repository, either in AWS cloud or on-prem. 

At the end of this six month partnership, we were happy to conclude that the Gen3 technology was able to meet the project aims and Gen3 instances have now been successfully deployed at both the Children's Cancer Institute and UMCCR, to better enable their human genome data management. Work to further streamline the safe and ethical use of human genome data for research in Australia is currently continuing in our associated projects: Global Technologies and Standards for Sharing Human Genome Research Data and Establishing a harmonised data environment for Australian Coronary Artery Disease (CAD) cohorts. 

If you’d like to find out more, the UMCCR and ZERO project teams will be sharing their experiences in establishing Gen3 instances in a webinar on 16 February 2022. You will hear about the challenges and opportunities that have arisen through this Australian BioCommons project while getting a demonstration of the capabilities of Gen3 and how it can support the management of human genome data for research purposes. 

Register now for the Establishing Gen3 to enable better human genome data sharing in Australia. 


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