New investment to improve human genomics data sharing for research in Australia

25 November 2020

A new investment from the Australian Research Data Commons (ARDC), Australian BioCommons and multiple partner organisations will transform how human genomics data for research is shared by bringing the best global technologies and standards to Australia. Through this new project, 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.

Working with key partners Zero Childhood Cancer, Australian Genomics Health Alliance, University of Melbourne Centre for Cancer Research, Garvan Institute of Medical Research, QIMR Berghofer Medical Research Institute, Australian Access Federation (AAF), National Computational Infrastructure (NCI) and Melbourne Bioinformatics, this 2.5 year project will implement standards and APIs developed by the Global Alliance for Genomics and Health, and also bring human genomic data holdings from participating efforts into alignment with the global human genome repository (European Genome-Phenome Archive (EGA)).

The project forms part of the Australian BioCommons Human Genome Informatics Initiative, and will deliver a services toolbox for improving FAIRness of genomic data at the institutions that hold most human genomes collected for research in Australia. The toolbox will include: systems to identify virtual cohorts nationally (i.e. across multiple human genomics repositories); tools to semi-automate data access request approvals; high assurance user authentication and user authorisation systems appropriate for human genome data sharing; and streamlined methods for metadata and data upload from Australia to EGA. Development of documentation and training materials and events to ensure researchers can use any systems implemented, and that other Australian providers/institutions can deploy similar resources will also be a key part of the project.

The funding component from ARDC resulted from a call for proposals for research-orientated platforms that enable researchers to collect or generate data, analyse that data and produce outputs that could be made Findable, Accessible, Interoperable, and Reusable (FAIR) and an investment to support transformative platforms that encouraged radical changes in the way research is conducted and/or dramatically increased the speed of research. For more information visit the ARDC announcement here.