This project will link two of Australia’s most important biomedical datasets in a highly curated, user-friendly and accessible environment.
Mice and humans share a similar set of genes and as a result their biology has played a critical role in medical advancements in recent years. Our understanding of key observable characteristics (phenotypes) in mice has helped drive medical interventions for conditions such as obesity, diabetes, immune defects, blood cancers such as leukaemia and many more. However, a deeper functional understanding of the genomic determinants of human health and disease is required to optimise clinical management and advance biomedical research. In particular, more efficient links between human and experimental datasets are required.
Linking two of Australia’s most important biomedical datasets will improve researcher 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. 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.
Core features




Who is this project for?
- Researchers
- Research organisations
- Infrastructure providers
- Government agencies (state and commonwealth)
- Data analysts and managers
- Clinicians
- Health practitioners
What does this project enable?
This project will result in the linkage of two of Australia’s most important biomedical datasets, in a highly curated, user-friendly and accessible environment. The new data asset will improve researcher 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.
Handy resources
- Visit the Missense Mutation Library
- Learn more about the ASPREE study
- For reference, the full title of this project is: “Enhanced data assets for Genomic Medicine – Integrating clinical and experimental genotype-phenotype data for biomedical discovery and disease management”