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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.

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.

Determining the Optimal Methodology for Identifying Incident Stroke Deaths Using Administrative Datasets Within Australia

Quantifying stroke incidence and mortality is crucial for disease surveillance and health system planning. Administrative data offer a cost-effective alternative to "gold standard" population-based studies. However, the optimal methodology for establishing stroke deaths from administrative data remains unclear.  

Workforce training needs to address social and emotional wellbeing in home-based Aboriginal and Torres Strait Islander aged care

To explore the training needs of the home care workforce in supporting the social and emotional wellbeing of Aboriginal and Torres Strait Islander peoples receiving aged care services through the Home Care Package Program.

Childhood Cancer Incidence and Survival in South Australia and the Northern Territory, 1990–2017, with Emphasis on Indigenous Peoples

Reports of a rise in childhood cancer incidence in Australia and globally prompted the investigation of cancer incidence and survival in South Australia and the Northern Territory over a 28-year period, with emphasis on Indigenous peoples.

Murru Minya-informing the development of practical recommendations to support ethical conduct in Aboriginal and Torres Strait Islander health research: a protocol for a national mixed-methods study

Conducting ethical and high-quality health research is crucial for informing public health policy and service delivery to reduce the high and inequitable burden of disease experienced by Aboriginal and Torres Strait Islander people.

Exploring the Reported Strengths and Limitations of Aboriginal and Torres Strait Islander Health Research: A Narrative Review of Intervention Studies

High quality intervention research is needed to inform evidence-based practice and policy for Aboriginal and Torres Strait Islander communities. We searched for studies published from 2008-2020 in the PubMed database. A narrative review of intervention literature was conducted, where we identified researcher reported strengths and limitations of their research practice.

Getting to the heart of the matter: a research partnership with Aboriginal women in South and Central Australia

Within the vast majority of qualitative health research involving Indigenous populations, Indigenous people have been marginalised from research conceptualisation and conduct. This reflects a lack of regard for Indigenous ways of knowing, being, and doing, has served to perpetuate deficit narratives of Indigenous peoples’ health and wellbeing, and contributes to failure in addressing inequities as a result of ongoing colonisation and institutionalised oppression and racism.

Epidemiology and determinants of cardiovascular disease in Indigenous populations

This Review describes the burden of cardiovascular disease across Indigenous populations and contextualizes the potential drivers and contributors to inequalities between Indigenous and non-Indigenous populations. The focus is on Indigenous populations across Aotearoa New Zealand, Australia, Canada and the USA, including Aboriginal and Torres Strait Islander, American Indian, Alaska Native, Canadian First Nations, Inuit, Métis, Māori, Native Hawaiian and Pacific Islander peoples.