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The relationship between administratively recorded ethnicity and outcomes for people admitted to Australian intensive care units with COVID-19

The relationship between ethnicity and mortality of patients critically ill with COVID-19 in Australia has not been described. Defining those communities at the highest risk of severe COVID-19 may assist with formulating effective public health policy and may improve the equitable delivery of health care in Australia.

Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous health

Type-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. 

Enhancement of scoping review methodology to reflect Aboriginal and Torres Strait Islander ways of knowing, being and doing

This paper argues for the enhancement of scoping review methods to incorporate Indigenous ways of knowing, being, and doing for more effective understandings of evidence of importance to Indigenous populations. 

Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis

In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed.

Future-proofing genomic data and consent management: a comprehensive review of technology innovations

Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.

Stroke incidence in Indigenous, minority populations: a review of methods for studying stroke in Aboriginal and Torres Strait Islander Australians

Declining worldwide or national stroke incidence rates are not always mirrored in disadvantaged, minority populations. Logistical barriers exist for effective measurement of incidence in minority populations; such data are required to identify targets for culturally appropriate interventions. In this comparative review, we aimed to examine whether “gold-standard” methodologies of stroke incidence studies are most effective for minority populations.

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.

Responsive service design and workforce strengthening: Recommendations to improve aged care for Aboriginal and Torres Strait Islander peoples

This study aimed to develop innovative and practical strategies and recommendations for aged care policy and practice that support the needs of Aboriginal and Torres Strait Islander peoples.

Transient naive reprogramming corrects hiPS cells functionally and epigenetically

Cells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown.

Powerful Nunga mums, strong healthy Bibi and families: improving care, coordination, support and knowledge of women who experience cardiometabolic complications in pregnancy

The 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.