Human Genomes Platform

The Challenge

Sequencing DNA at population-scale leads to better understanding of disease causes, diagnosis/detection, and more options for tailored treatments. 

These outcomes require data that is searchable, securely shareable, and often linked across multiple jurisdictions to create cohorts large enough to identify correlations between DNA sequences and health consequences.

The Response

The Human Genomes Platform project will enhance capability for securely and responsibly sharing human genome research data at the institutions that hold most human genomes collected for research in Australia. 

The data held at the Garvan Institute, Children’s Cancer Institute, QIMR Berghofer Medical Research Institute, and The University of Melbourne Centre for Cancer Research cover tens of thousands of individuals. 

The project is part of the BioCommons Human Genome Informatics Initiative to improve data management and sharing for national consortia, including Australian Genomics and Zero Childhood Cancer.

The Human Genomes Platform project will investigate best practice technologies for human genome data sharing, and deploy a ‘services toolbox’ for improving the FAIRness of genomic data. 

This tool box will replace manual systems and bespoke solutions currently used by the partners. Standards and APIs from the Global Alliance for Genomic Health (GA4GH) will be implemented, and data holdings brought into alignment with the global human genome repository (European Genome Phenome Archive, EGA). 

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 deployments in Australia from a technical, policy and funding perspective.

Who Will Benefit

Researchers who conduct human genome analysis, human genome data repository custodians, data access committees members, and developers/engineers at other Australian providers/institutions wishing to deploy the resources elsewhere will all benefit from this project’s core features:

• Global alignment – Australian systems will be better aligned with global systems, and Australian researchers will connect more closely to international human genome data sharing initiatives.
• Global scale – Genomic data from thousands of Australians will be able to be securely and responsibly shared on national and global scales, enabling comparison with very large numbers of other genomes to ensure the realisation of their full research value.

The Partners

Our partners are:

• BioCommons
• The University of Melbourne Centre for Cancer Research 
• The Children’s Cancer Institute
• ZERO Childhood Cancer
• Garvan Institute of Medical Research 
• QIMR-Berghofer Medical Research Institute 
• Australian Genomics
• Australian Access Federation
• National Computational Infrastructure
• Bioplatforms Australia

Target Outcomes

This project will implement standards and APIs from the Global Alliance for Genomic Health, and bring their data holdings into alignment with EGA’s 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 existing data sets. Critically, the project will also provide a working template any other institution can adopt and deploy.