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Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence
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.
Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.
Timo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence timo.lassmann@thekids.org.au
CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types
Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
This data set provides a useful reference point for genomic studies on Aboriginal Australians
The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
We show that vlincRNAs genes likely function in cis to activate nearby genes
Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL