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A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Epigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.

Orm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes

CAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity. 

Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.

We have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.