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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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DraculR: A Web-Based Application for In Silico Haemolysis Detection in High-Throughput microRNA Sequencing DataThe search for novel microRNA (miRNA) biomarkers in plasma is hampered by haemolysis, the lysis and subsequent release of red blood cell contents, including miRNAs, into surrounding fluid. The biomarker potential of miRNAs comes in part from their multicompartment origin and the long-lived nature of miRNA transcripts in plasma, giving researchers a functional window for tissues that are otherwise difficult or disadvantageous to sample.
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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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Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemiaAcute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.
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Longitudinal Study of Indigenous Children: Adolescent never smoking and associations with individual, social, and environmental factorsFuelled by the tobacco industry, commercial tobacco use is a major cause of preventable morbidity and mortality among Aboriginal and Torres Strait Islander peoples. Preventing adolescent smoking initiation is critical to reducing uptake. Understanding individual, social, and environmental factors that are protective against smoking can inform prevention strategies.
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The impact of genetics and the environment on cancer risk in Indigenous Australians: a narrative reviewAboriginal and Torres Strait Islander (hereafter respectfully named Indigenous) Australians are diagnosed with some cancers substantially more frequently than non-Indigenous Australians implying a different risk factor landscape. Additionally, poorer outcomes for certain cancers are exacerbated by lower cancer screening rates and later diagnoses compared to non-Indigenous Australians.
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Powerful Nunga mums, strong healthy Bibi and families: improving care, coordination, support and knowledge of women who experience cardiometabolic complications in pregnancyThe Model of Care supports the health of women and their babies with cardiometabolic complications of pregnancy and aids in the prevention and management of cardiometabolic disease in the short and long-term. It was co-designed by Aboriginal women with lived experiences of cardiometabolic complications in pregnancy.
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Effective primary care management of type 2 diabetes for indigenous populations: A systematic reviewIndigenous peoples in high income countries are disproportionately affected by Type 2 Diabetes. Socioeconomic disadvantages and inadequate access to appropriate healthcare are important contributors.
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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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Health and well-being needs of Indigenous adolescents: A protocol for a scoping review of qualitative studiesImproving the health of Indigenous adolescents is central to addressing the health inequities faced by Indigenous peoples. To achieve this, it is critical to understand what is needed from the perspectives of Indigenous adolescents themselves. There have been many qualitative studies that capture the perspectives of Indigenous young people, but synthesis of these has been limited to date.