Skip to content

Search

Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western Australia

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.

An unbiased exploration of the human regulatory landscape

We are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu

Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cells

The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...

DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic Endothelium

VEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

A phenotype centric benchmark of variant prioritisation tools

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

Reference genotype and exome data from an Australian Aboriginal population for health-based research

This data set provides a useful reference point for genomic studies on Aboriginal Australians

Transcriptional landscape of Mycobacterium tuberculosis infection in macrophages

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

CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSs

CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types

Autism risk associated with parental age and with increasing difference in age between the parents

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