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.