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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translationThe number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.
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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq dataMachine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.
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Western Australia remote aeromedical substance use disorders outcomesSubstance use disorders (SUDs) cause significant harm to regional Australians, who are more likely to misuse alcohol and other drugs (AODs) and encounter difficulty in accessing treatment services. The primary aims of this study were to describe the demographics of patients aeromedically retrieved from regional locations and compare hospital outcomes with a metropolitan-based cohort.
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Standardization of Epidemiological Surveillance of Acute Rheumatic FeverAcute rheumatic fever (ARF) is a multiorgan inflammatory disorder that results from the body's autoimmune response to pharyngitis or a skin infection caused by Streptococcus pyogenes (Strep A). Acute rheumatic fever mainly affects those in low- and middle-income nations, as well as in indigenous populations in wealthy nations, where initial Strep A infections may go undetected.
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Gender differences in time allocation contribute to differences in developmental outcomes in children and adolescentsUsing over 50 thousand time-use diaries from two cohorts of children, we document significant gender differences in time allocation in the first 16 years in life. Relative to males, females spend more time on personal care, chores and educational activities and less time on physical and media related activities. These gender gaps in time allocation appear at very young ages and widen overtime.
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Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation StudyThe aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.
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Gender-Neutral Toilets: A Qualitative Exploration of Inclusive School Environments for Sexuality and Gender Diverse Youth in Western AustraliaSchool toilets have been identified by sexuality and gender diverse (SGD) students as the least safe spaces in educational institutions. They are sites of verbal, physical and sexual victimisation.
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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander peopleGlobally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.
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Cancer chemotherapy: insights into cellular and tumor microenvironmental mechanisms of actionChemotherapy has historically been the mainstay of cancer treatment, but our understanding of what drives a successful therapeutic response remains limited.
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The immunogenetic impact of European colonization in the AmericasThe introduction of pathogens originating from Eurasia into the Americas during early European contact has been associated with high mortality rates among Indigenous peoples, likely contributing to their historical and precipitous population decline.