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 sequence and health consequences.
Part of an Australian BioCommons Human Genome Informatics Initiative to realise benefits for national consortia, including Australian Genomics and Zero Childhood Cancer, the Human Genomes Platform project will deliver a services toolbox for improving FAIRness of genomic data at the institutions that hold most human genomes collected for research in Australia. These institutions include: the Garvan Institute, Children’s Cancer Institute, QIMR Berghofer Medical Research Institute, and The University of Melbourne Centre for Cancer Research, covering 10,000s of individuals.
The Human Genome Platform project will implement standards and APIs from the Global Alliance for Genomic Health, and bring their data holdings into alignment with the global human genome repository (European Genome Phenome Archive). The project will investigate best practice technologies for human genome data sharing, and deploy a ‘services toolbox’ built on existing browse and search functions in use at participating repositories. This tool box will replace manual systems and bespoke solutions currently being used by the partners.
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 as an output, a working template any other institution can adopt and deploy.
Who is this project for?
- Researchers who conduct human genome analysis
- Human genome data repository custodians
- Data access committees members
- Developers/engineers at other Australian providers/institutions wishing to deploy the resources elsewhere
What does this project enable?
This project will implement standards and APIs from the Global Alliance for Genomic Health, and bring their data holdings into alignment with the global human genome repository (European Genome Phenome Archive). Genomic data from thousands of Australians will be able to be shared securely and responsibly on national and global scales, enabling comparison with very large numbers of other genomes to ensure their full research value can be realised.