Search
Research
Personalised analytics for rare disease diagnosticsHere we focus on the problem of prioritising variants with respect to the observed disease phenotype
Research
A phenotype centric benchmark of variant prioritisation toolsWe hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
Research
Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cellsThe analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...
Research
CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
Research
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonTimo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Head, Computational Biology timo.lassmann@thekids.org.au
News & Events
What’s in a name?In WA, 60,000 kids live with a rare disease, and of those about half do not have a diagnosis. At The Kids, researchers are leading the charge in developing a method to identify genetic variations, so that kids like Charlotte can get answers.
Research
Electrostatic Filters to Reduce COVID-19 Spread in Bubble CPAP: An in vitro Study of Safety and EfficacyBubble CPAP may be used in infants with suspected or confirmed COVID-19. Electrostatic filters may reduce cross infection. This study aims to determine if including a filter in the bubble CPAP circuit impacts stability of pressure delivery. A new electrostatic filter was placed before (pre) or after (post) the bubble CPAP generator, or with no filter (control) in an in vitro study. Pressure was recorded at the nasal interface for 18 h (6 L/min; 7 cm H2O) on 3 occasions for each configuration. Filter failure was defined as pressure >9 cm H2O for 60 continuous minutes. The filter was weighed before and after each experiment.
Research
Bilateral murine tumor models for characterizing the response to immune checkpoint blockadeThis protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade
Research
Expression Levels of Therapeutic Targets as Indicators of Sensitivity to Targeted TherapeuticsWe investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets
Research
Identification of novel cerebellar developmental transcriptional regulators with motif activity analysisThe FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development