Aggregating and Integrating Data on Health Outcomes Associated with Bushfires at a National Scale
Exploreabout Aggregating and Integrating Data on Health Outcomes Associated with Bushfires at a National Scale
Human Genomes Platform
Global technologies and standards for sharing human genomics research data
Who will benefit
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
Program
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 has enhanced the 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 has investigated best-practice technologies for human genome data sharing.
This tool box replaces manual systems and bespoke solutions currently used by the partners. Standards and APIs from the Global Alliance for Genomic Health (GA4GH) have been implemented, and data holdings brought into alignment with the global human genome repository (European Genome Phenome Archive, EGA).
The specific aims of the project were to investigate:
- 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 has also explored the feasibility of local EGA node deployments in Australia from a technical, policy and funding perspective.
The Outcomes
Outputs from the project to date include:
- Federated Identity and Access Management (IAM) Discovery Phase Report
- Data Access Committee (DAC) Automation Discovery Phase Report
- a poster presented at the 2022 ELIXIR All Hands meeting
- instructions for deploying Resource Entitlement Management System (REMS) on AWS
- “Genomic data – improving discovery and access management” webinar recording
- final project showcase recording.
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:
The Partners
- 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
Further Resources
- Read more about the project on the Australian BioCommons website.
Contact the ARDC
Timeframe
March 2021 to June 2023
Current Phase
Complete
ARDC Co-investment
$958,080
Project lead
Australian BioCommons
Research Topic
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