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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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Current gaps in knowledge and future research directions for Aboriginal and Torres Strait Islander children with cancerPaediatric cancer is the leading cause of disease-related death in Australian children. Limited research focuses on cancer in Aboriginal and Torres Strait Islander children. Although there appears to be a lower incidence of cancer overall in Aboriginal and Torres Strait Islander children compared with non-Indigenous children, a high proportion of Aboriginal and Torres Strait Islander children are diagnosed with acute myeloid leukaemia.
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Codesigning enhanced models of care for Northern Australian Aboriginal and Torres Strait Islander youth with type 2 diabetes: study protocolPremature onset of type 2 diabetes and excess mortality are critical issues internationally, particularly in Indigenous populations. There is an urgent need for developmentally appropriate and culturally safe models of care. We describe the methods for the codesign, implementation and evaluation of enhanced models of care with Aboriginal and Torres Strait Islander youth living with type 2 diabetes across Northern Australia.
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Prevalence of Eating Disorder Symptoms in Transgender and Gender Diverse Adolescents Presenting for Gender-Affirming CareTo describe the prevalence of eating disorder symptoms among adolescents seeking gender-affirming care.
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Biological sex estimation using ancient DNA in Classic Maya contexts: some findings from Naachtun (Guatemala)Recent advances in paleogenomics have opened up new prospects for the study of ancient burial customs and social structures. In this note, we report on the first results of a program now under way in a small residential compound in Naachtun, Guatemala.
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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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Achieving cultural safety in genetic counseling for Aboriginal and Torres Strait Islander people in AustraliaGlobally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession.
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Children arriving hungry in the first year of school: population trends in Australia from 2009 to 2021Access to adequate nutrition is a human right. In 2023, 23% of Australian households were severely food insecure, reducing food intake, skipping meals or days of eating. Food insecurity in early childhood is linked to poor health and development. Specifically, breakfast provides children with the necessary nutrients required for sustained attention, memory, and cognitive growth. Australian research has reported that one in three children aged 8–18 years regularly skip breakfast. However, there is little understanding of the prevalence of food insecurity among young children in Australia.
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Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous healthType-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.
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Early moderate prenatal alcohol exposure and maternal diet impact offspring DNA methylation across speciesAlcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure resembling common patterns of alcohol consumption in pregnancy in humans.