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CAGE-defined promoter regions of the genes implicated in Rett Syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

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...

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

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

Elucidating the interaction of CF airway epithelial cells and rhinovirus: Using the host-pathogen relationship to identify future therapeutic strategies

A better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF

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

Single-cell data combined with phenotypes improves variant interpretation

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.

Adiposity associated DNA methylation signatures in adolescents are related to leptin and perinatal factors

Epigenetics links perinatal influences with later obesity. We identifed differentially methylated CpG (dmCpG) loci measured at 17 years associated with concurrent adiposity measures and examined whether these were associated with hsCRP, adipokines, and early life environmental factors. Genome-wide DNA methylation from 1192 Raine Study participants at 17 years, identified 29 dmCpGs associated with body mass index, 10 with waist circumference and 9 with subcutaneous fat thickness.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

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.

3D Face Reconstruction with Mobile Phone Cameras for Rare Disease Diagnosis

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.