Human Genomes Platform Project

The Australian BioCommons, with support from the Australian Research Data Commons (ARDC) and Bioplatforms Australia, has brought together a multidisciplinary team comprising organisations that represent many of the largest human genome sequencing and analysis efforts in Australia to deliver a $3.3M, nationally funded collaborative project – the Human Genomes Platform Project.

The project is designed to enhance capability for securely and responsibly sharing human genome research data nationally and internationally, ensuring maximum value can be derived from these valuable assets. It is investigating best practice technologies that have been globally developed for the purposes of human genome data sharing, and deploying Australian first technologies in the form of a ‘services toolbox’ for improving FAIRness of genomic data at the organisations that hold most human genomes collected for research in Australia.

The toolbox will build on existing browse and search functions in use at participating repositories to achieve controlled access and sharing by implementing standards and APIs from the Global Alliance for Genomic Health (GA4GH); and also bring the data holdings at each repository into better alignment with the European Genome-phenome Archive (EGA), the global human genome repository.

Research gains will include fundamental improvements in data management and access to new capabilities, especially the identification of cohorts within and across data holdings to enable new science and translation.

Critically, the project will establish and implement a working template any other institution can adopt and deploy.

The specific aims of the project are to investigate and subsequently implement:

• systems for identifying cohorts of human genomes across multiple participating repositories
• semi-automated systems that can be used by Data Access Committees (DACs) at participating repositories to expedite user approvals
• federated identity and access management systems with assurance levels appropriate for human genome data
• systems for streamlined encryption and uploading genome files to international repositories such as the EGA

The project is also exploring the feasibility of local EGA node deployment(s) in Australia from a technical, policy and funding perspective.

Underpinning the project is a documentation and training component to enable other researchers and clinicians to use the systems and IT infrastructure providers to deploy the systems elsewhere.

For more information, see Australian BioCommons.