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Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context

Ongoing 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.

Sex-specific placental transcriptome alterations in late-onset preeclampsia reveal male-biased immune and metabolic dysregulation

Preeclampsia is a hypertensive disorder of pregnancy with major maternal and fetal consequences. While the molecular basis of early-onset preeclampsia is well studied, the mechanisms underlying late-onset disease-and how they differ by fetal sex-remain poorly understood. Placental transcriptomic profiling at term can reveal persistent molecular alterations reflecting cumulative disease processes.

Current gaps in knowledge and future research directions for Aboriginal and Torres Strait Islander children with cancer

Paediatric 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.

Cardiometabolic Biomarkers and Prediction of Kidney Disease Progression: The eGFR Cohort Study

Traditional markers modestly predict chronic kidney disease progression in Aboriginal and Torres Strait Islander people. Therefore, we assessed associations of cardiometabolic and inflammatory clinical biomarkers with kidney disease progression among Aboriginal and Torres Strait Islander people with and without diabetes.

Prevalence of type 2 diabetes among global Indigenous adult populations: a systematic review

Despite evidence documenting high prevalence of type 2 diabetes among several Indigenous populations, a comprehensive systematic review of type 2 diabetes among global Indigenous Peoples has not been recently conducted. Our aim was to report region-, time-, age- and sex-specific type 2 diabetes prevalence among Indigenous adult populations globally.

Islet autoimmunity in young First Nations women with prediabetes and type 2 diabetes

Type 1 diabetes in First Nations peoples is low yet type 2 diabetes is at epidemic proportions. This study aimed to determine the prevalence of islet autoimmunity in First Nations women with dysglycaemia and its association with clinical features.

Documenting Cardiovascular-Kidney-Metabolic Risk and Disease Within an Aboriginal Cohort

Aboriginal and Torres Strait Islander people experience high burden of cardiovascular, kidney and metabolic conditions, often manifesting in multimorbidity and contributing to over one third of life expectancy differentials. This article explores cardiovascular-kidney-metabolic (CKM) health within an Aboriginal cohort by documenting the burden of early risk, disease and factors associated with disease progression.

HDL remodeling and enrichment with apoCIII and apoE in Indigenous Australians

Indigenous Australians have an increased risk of type 2 diabetes mellitus and premature cardiovascular disease. Subpopulations of high-density lipoprotein (HDL) have been associated with increased cardiovascular risk, but HDL composition, size, or function have not been studied in Indigenous Australians.

Indigenous Genomics

The Indigenous Genomics Group aims to build Indigenous leadership in genomic and data sciences, precision health, and ethics to improve health equity and the wellbeing of Indigenous people, families and communities.