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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

Functional annotation of the vlinc class of non-coding RNAs using systems biology approach

We show that vlincRNAs genes likely function in cis to activate nearby genes

Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsin

Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL

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...

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...

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues

Personalised analytics for rare disease diagnostics

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

Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironment

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained

Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity

Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors