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Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics ContextOngoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.
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A modular approach to forecasting COVID-19 hospital bed occupancyMonitoring the number of COVID-19 patients in hospital beds was a critical component of Australia's real-time surveillance strategy for the disease. From 2021 to 2023, we produced short-term forecasts of bed occupancy to support public health decision-making.
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Rewiring endogenous genes in CAR T cells for tumour-restricted payload deliveryThe efficacy of chimeric antigen receptor (CAR) T cell therapy in solid tumours is limited by immunosuppression and antigen heterogeneity. To overcome these barriers, 'armoured' CAR T cells, which secrete proinflammatory cytokines, have been developed. However, their clinical application has been limited because of toxicity related to peripheral expression of the armouring transgene.
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The mitophagy receptors BNIP3 and NIX mediate tight attachment and expansion of the isolation membrane to mitochondriaBNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.
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The usability and feasibility of a self-compassion chatbot (COMPASS) for youth living with type 1 diabetesAlthough it is well established that youth with type 1 Diabetes (T1D) experience high rates of distress, current clinical care is often under-resourced and unable to provide sufficient or timely psychological support. The current study was designed to evaluate the safety, usability and feasibility of 'COMPASS,' a self-compassion chatbot intervention.
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Vitamin D content of wild-caught traditional foods collected on Nyoongar Country in Western AustraliaLow vitamin D status and intake are prevalent among the Australian population, including Aboriginal and Torres Strait Islander peoples. We hypothesised that some traditional foods could contain vitamin D, and measured vitamin D in foods from Nyoongar Country, Western Australia. Samples of kangaroo, emu, squid/calamari and lobster/crayfish were collected and prepared by Aboriginal people using traditional and contemporary methods.
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Characterizing the Nature of Alexithymia in Autistic Adults: Validation of the Perth Alexithymia QuestionnaireAlexithymia—a trait characterized by difficulties in emotion processing—is of high interest in the autism field. However, the lack of validated alexithymia measures for autistic individuals limits progress. This study aimed to address this gap by examining the psychometric properties of the Perth Alexithymia Questionnaire (PAQ) across autistic and non-autistic samples. Using the PAQ, we investigated how alexithymia manifests in autistic individuals and its links with poor mental health outcomes (anxiety).
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#Parentingtips: A Descriptive Study of Information for Parents on TikTokParents and caregivers often turn to the internet for information about their child's health and development. Research investigating content related to parenting on the world's most popular social media platform, TikTok, has not been conducted.
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Co-occurring Neurodevelopmental Conditions in Children: Advocating for Transdiagnostic Approach to AssessmentsApproximately 8% of all children experience developmental and mental health conditions. Similarities in characteristics across neurodevelopmental conditions-such as difficulties in communication and language, social interaction, motor coordination, attention, activity regulation, behavior, mood, and sleep-make it challenging to attribute these characteristics exclusively to specific diagnoses and assessments. The purpose of this study was to identify symptomatic domains across neurodevelopmental conditions in children and to explore dimension reduction for transdiagnostic assessment.
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Pharmacogenomics in pediatric oncology: Australian adolescent or young adult and caregiver perspectivesPreemptive pharmacogenomic (PGx) testing in pediatric oncology patients could reduce toxicity and improve efficacy of medications yet remains underutilized. Consumer identified implementation barriers have not been extensively explored nor included adolescent or young adult (AYA) patient perspectives. This study describes Australian pediatric oncology consumer perspectives on PGx testing, elucidating barriers to implementation.