Human Genomes Platform Project delivers collaborative vision for a national human omics research data ecosystem

The Human Genomes Platform Project (HGPP) wrapped up in November 2023, having investigated and prototyped a toolbox of services designed to enhance Australian capabilities for secure and responsible sharing of human omics research data.

Extensive investigations since January 2021 into global best practice technologies for human omics in Australia focused on:

  • A customised user interface for discovering virtual cohorts, using a GA4GH Beacon (version 2) network

  • An online management system that removes the burden associated with data access committee approvals

  • Finely controlled identity and access management enabled by CILogon and COmanage

  • A comprehensive report and proposal for the development of a national repository for human omics data aligned with international efforts, such as the Federated European Phenome Genome Archive (FEGA).

To learn more about the toolbox contents and the project more generally, watch the final HGPP showcase.

Despite a desire to share data for research use, there are many siloed collections of human omics data in Australia that are often difficult for outside users to access. With this challenge in mind, the HGPP assembled a network of experts across biomedical research and digital infrastructure domains. The group explored and tested a selection of foundational infrastructure to pave the way for human omics data in Australia to be findable, searchable, shareable, and linkable to analytical capabilities, all while ensuring the privacy of individuals is protected and data processing is performed ethically, securely and safely.

Looking to the future and building on the HGPP, the Australian BioCommons Human Genome Informatics initiative has ambitious plans to continue exploring and establishing national infrastructure to propel human omics research in Australia. New HGI pursuits include building the Australian Cardiovascular disease Data Commons and the recently announced GUARDIANS project.

Key Outputs from HGPP

The HGPP formed part of the Human Genome Informatics initiative and was funded by NCRIS via the Australian Research Data Commons (https://doi.org/10.47486/PL032) and Bioplatforms Australia. Contributions were also made by partner organisations: Australian Access Federation, Garvan Institute for Medical Research, National Computational Infrastructure, QIMR Berghofer Medical Research Institute, The University of Melbourne Centre for Cancer Research, Children’s Cancer Institute, and ZERO Childhood Cancer.

Patrick Capon2024, HGI