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Candidate gene testing in clinical cohort studies with multiplexed genotyping and mass spectrometry

We describe a cost-effective tag single nucleotide polymorphism approach using a multiplexed genotyping assay with mass spectrometry

The epigenetic origin of alcohol-induced disorders: a cross-species study

Alexander David Martyn Larcombe Martino Symons BScEnv (Hons) PhD BSc PhD B.A. (Hons) PhD. Honorary Research Fellow Head, Chronic Diseases Research

Water Quality and the Microbiome Study (TUMS): The effects of chlorinated drinking water on the assembly of the infant gut microbiome

David Debbie Desiree Matt Susan Martino Palmer Silva Cooper Prescott BSc PhD BSc BND PhD MBBS, FRACP, MPH, PhD BCA Marketing, BSc Statistics and

Conservation of gene expression patterns between the amniotic and nasal epithelium at birth

Amniotic epithelial cells are fetal-derived stem cells, capable of differentiating into all three germ layers, including mature epithelial cell populations. Here, we hypothesised that the amniotic epithelium might serve as a surrogate tissue source for investigating transcriptional profiles in the respiratory epithelium of newborns.

Higher Promoter Methylation of the Ubiquitin-Associated and SH3 Domain Containing A (UBASH3A) Gene Is Associated With T-Lymphocyte Ontogeny and Reduced Susceptibility to Early-Onset Sepsis

We investigated the genetic and epigenetic regulation of the UBASH3A gene and its association with early-onset sepsis. Using matched whole blood DNA methylation, gene expression, genotypes, and immune cell counts from the EPIC-HIPC newborn cohort, we report that promoter methylation was negatively correlated with ontogenetic changes in UBASH3A gene expression and circulating CD3+ T-cell numbers. 

Preliminary Evidence of Blood DNA Methylation Changes in Pregnant Women Adhering to a Mediterranean Diet

Consumption of a Mediterranean diet (MD) has been associated with reduced incidence of non-communicable diseases and reduced overall mortality, with epigenomic effects representing plausible mediators. The aim of this pilot study was to explore potential epigenetic associations between DNA methylation markers in blood and adherence to an MD in pregnancy.

Advancing bioinformatics capacity through Nextflow and nf-core: lessons from an early-to mid-career researchers-focused program at The Kids Research Institute Australia

he increasing adoption of high-throughput "omics" technologies has heightened the demand for standardized, scalable, and reproducible bioinformatics workflows. Nextflow and nf-core provide a robust framework for researchers, particularly early- and mid-career researchers (EMCRs), to navigate complex data analysis.

Immune Development in Early Life (IDEaL) longitudinal cohort study protocol: Identifying biomarkers of vaccine responsiveness, respiratory infection, and asthma

Early-life immune development is a critical factor in predicting the risk of childhood respiratory infections, asthma, and poor vaccine responses. Identifying immune endotypes that predispose children to these conditions could lead to the development of predictive biomarkers and early interventions, potentially improving long-term health outcomes. 

Predictive gene expression signature diagnoses neonatal sepsis before clinical presentation

Neonatal sepsis is a deadly disease with non-specific clinical signs, delaying diagnosis and treatment. There remains a need for early biomarkers to facilitate timely intervention. Our objective was to identify neonatal sepsis gene expression biomarkers that could predict sepsis at birth, prior to clinical presentation. 

Biomarkers of vaccine safety and efficacy in vulnerable populations: Lessons from the fourth international precision vaccines conference

Vaccination has been a cornerstone of public health, substantially reducing the global burden of infectious diseases, notably evident during the COVID-19 pandemic caused by SARS-CoV-2.