Search
We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...
Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence
Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances.
Epigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.
CAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.
A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages
Orm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes
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.
Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors