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Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysisIn 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.
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Enhancement of scoping review methodology to reflect Aboriginal and Torres Strait Islander ways of knowing, being and doingThis 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.
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Individuals with Inflammatory Bowel Disease Have an Altered Gut Microbiome Composition of Fungi and ProtozoaIt is known that the bacterial gut microbiome is altered in inflammatory bowel disease (IBD), but far less is known about the role of eukaryotic microorganisms in IBD.
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Indigenous peoples and inclusion in clinical and genomic research: Understanding the history and navigating contemporary engagementDespite significant improvements in pediatric cancer survival outcomes, there remain glaring disparities in under-represented racial and ethnic groups that warrant mitigation by the scientific and clinical community. To address and work towards eliminating such disparities, the Pacific Pediatric Neuro-Oncology Consortium (PNOC) and Children's Brain Tumor Network (CBTN) established a Diversity, Equity, and Inclusion (DEI) working group in 2020. The DEI working group is dedicated to improving access to care for all pediatric patients with central nervous system (CNS) tumors, broadening diversity within the research community, and providing sustainable data-driven solutions.
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Researchers’ self-reported adherence to ethical principles in Aboriginal and Torres Strait Islander health and medical research and views on improving conduct: a mixed methods studyTo examine researchers' reports of adherence to ethical principles in their most recent research project, including factors associated with higher self-reported adherence, and perceptions of how research conduct could be improved.
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Towards precision cancer medicine for Aboriginal and Torres Strait Islander cancer health equityDelivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine.
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Associations between mental health profiles and later school outcomesThe dual-factor model of mental health proposes that high wellbeing and low distress are necessary to define mental health. This study used latent profile analysis to identify mental health profiles in a sample of 3,587 Australian grade 6 students and explored the association between mental health profiles and school outcomes measured in grades 7 and 9.
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Genomic characterization of clinically significant blood group variants in Aboriginal AustraliansHematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.
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Cohort profile: The WAACHS Linked Data StudyDespite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.
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Clinical Pathway for Coronary Atherosclerosis in Patients Without Conventional Modifiable Risk Factors: JACC State-of-the-Art ReviewReducing the incidence and prevalence of standard modifiable cardiovascular risk factors (SMuRFs) is critical to tackling the global burden of coronary artery disease (CAD). However, a substantial number of individuals develop coronary atherosclerosis despite no SMuRFs. SMuRFless patients presenting with myocardial infarction have been observed to have an unexpected higher early mortality compared to their counterparts with at least 1 SMuRF.