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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.

The impact of genetics and the environment on cancer risk in Indigenous Australians: a narrative review

Aboriginal 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.

Barriers and Enablers to Supporting the Healthy Ageing Needs of Aboriginal and Torres Strait Islander Peoples Within Aged Care: A Qualitative Study

There is a growing understanding of how Aboriginal and Torres Strait Islander peoples in Australia define healthy ageing. Little is known however about how aged care services can support their healthy ageing needs. Therefore, the aim of this study was to explore community and service provider perspectives on how home-based and residential aged care services can best support the healthy ageing needs of Aboriginal and Torres Strait Islander peoples.

Psychological wellbeing outcomes across genders in childhood and adolescence aged 8–18 years: a population-level perspective

This study aimed to examine the difference in levels of psychological wellbeing outcomes of binary and non-binary transgender and cisgender students aged 8–18 years in South Australia using population-level data.

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.

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.

Progesterone receptor mediates ovulatory transcription through RUNX transcription factor interactions and chromatin remodelling

Progesterone receptor (PGR) plays diverse roles in reproductive tissues and thus coordinates mammalian fertility. In the ovary, rapid acute induction of PGR is the key determinant of ovulation through transcriptional control of a unique set of genes that culminates in follicle rupture. However, the molecular mechanisms for this specialized PGR function in ovulation is poorly understood.

Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemia

Acute 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.

Consultation informs strategies for improving the use of functional evidence in variant classification

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

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.