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Biomedical Data Asset
Integrated clinical and experimental genotype-phenotype data for biomedical discovery and disease management
Who will benefit
Researchers, research organisations, infrastructure providers, government agencies (state and commonwealth), data analysts and managers, clinicians, health practitioners
Program
The Challenge
Mice and humans share a similar set of genes and, as a result, their biology has played a critical role in medical advancements for conditions such as obesity, diabetes, immune defects, blood cancers such as leukaemia and many more. If we are to develop a deeper understanding of the genomic determinants of human health and disease, more efficient links between human and experimental datasets are required.
The Response
The Biomedical Data Asset links 2 of Australia’s most important biomedical datasets – ASPREE and Missense Mutation Library – in a highly curated, user-friendly and accessible environment for genomic medicine.
Use cases for the data asset include:
- pursuing the most promising variants that have supportive evidence from both datasets, as potential drivers of disease (pathogenic variants) or novel drug targets (protective variants)
- improve clinical cancer diagnosis in the young, and improve overall understanding of genetic drivers of cancer
- improve the ability to interpret potentially pathogenic variation in human autoimmune disease.
The project involves 4 elements:
Data implementation plan
A data implementation plan has been developed and socialised with identified beneficiaries and end user groups to ensure the plan meets the needs of the stakeholder community.
Data wrangling
An enhanced, highly curated subset of both the ASPREE and Missense datasets enable clear linkages and interoperability across the data. Curation and processing/analytical workflows are available through open source code repositories such as GitHub ensuring the data asset meets the Interoperability and Reusability principles of FAIR.
Data harmonisation and creation of gene/variant mapping
An enhanced data mapping function is developed, allowing end users to specify a gene variant and pull down the relevant data from both the ASPREE and Missense collections into one data resource ready for use in analytical workflows. Harmonisation workflows is available through open-source code repositories such as GitHub ensuring the data asset meets the Interoperability and Reusability principles of FAIR.
Data asset interface
The final enhanced data asset is available to the research community through an easy-to-use data portal ensuring the data asset meets the Findable and Accessible principles of FAIR.
The Outcomes
Access the Biomedical Data Asset.
This project linked 2 of Australia’s most important biomedical datasets, in a highly curated, user-friendly and accessible environment. The new data asset will improve researchers’ ability to discover and experimentally validate gene function to improve disease diagnosis and treatment, especially in clinical human studies where state-of -the-art genomic technologies have been used to identify genetic variation related to health and disease.
Who Will Benefit
Researchers, research organisations, infrastructure providers, government agencies (state and commonwealth), data analysts and managers, clinicians and health practitioners will benefit from the project’s core features:
The Partners
- Phenomics Australia
- Bioplatforms Australia
- School of Public Health and Preventative Medicine / ASPREE, Monash University
- John Curtin School of Medical Research, Australian National University
Contact the ARDC
Timeframe
November 2020 to October 2022
Current Phase
Complete
ARDC Co-investment
$400, 000
Project lead
Phenomics Australia
