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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa

Machine learning and clinical epigenetics: a review of challenges for diagnosis and classification

We now have a growing number of epigenetic alterations in disease, and this offers a chance to increase sensitivity and specificity of future diagnostics and therapies

Clinical characteristics of Western Australian children diagnosed with type 2 diabetes before 10 years of age

We aimed to describe the characteristics of Western Australian children aged less than 10 years diagnosed with type 2 diabetes between June 2000 and June 2017

Not just a cough: Wet cough research prompts significant change in clinical and community practice

Results from a world first-study measuring prevalence of chronic wet cough and protracted bacterial bronchitis in four Kimberley Aboriginal communities have highlighted the enormity of the health problem.

Draft genome sequences of the pathogenic fungi Scedosporium aurantiacum and Scedosporium apiospermum from clinical isolates

Scedosporium species are filamentous fungi with inherent broad antifungal resistance that pose opportunistic infection threats. We present draft genome assemblies of S. aurantiacum (11 contigs) and S. apiospermum (9 contigs), derived from Oxford Nanopore sequencing of one Australian clinical isolate each.

Assessing Clinical Deterioration in Children With Dark-Coloured Skin: A Scoping Review

Background: Signs of clinical deterioration may appear differently in children with dark-coloured skin. How to assess children in this cohort is currently poorly defined. Aim: To explore available information on the assessment of clinical deterioration in children with dark-coloured skin and identify research deficits.

Enhanced versus standard hydration in acute ischemic stroke: REVIVE—A randomized clinical trial

Early neurological deterioration (END) within 72 h of stroke onset is associated with poor prognosis. Optimizing hydration might reduce the risk of END.

qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.

Correlating Quantitative and Genomic SARS-CoV-2 Wastewater Data with Clinical Metrics in Metropolitan Perth, Western Australia

Wastewater-based epidemiology (WBE) has emerged as a key method for the continuous monitoring of COVID-19 prevalence including circulating SARS-CoV-2 lineages. WBE addresses the limitations of traditional clinical COVID-19 surveillance such as clinical test availability, fluctuating testing rates, and increased reliance on rapid antigen tests.

Normative Modeling of Brain Morphometry in Clinical High Risk for Psychosis

The lack of robust neuroanatomical markers of psychosis risk has been traditionally attributed to heterogeneity. A complementary hypothesis is that variation in neuroanatomical measures in individuals at psychosis risk may be nested within the range observed in healthy individuals.