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Consultation informs strategies for improving the use of functional evidence in variant classificationWhen 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.
Research
Reported processes and practices of researchers applying for human research ethics approval for Aboriginal and Torres Strait Islander health research: a mixed methods studyTo examine self-reported practices for obtaining ethics approval and reflections on ethics application processes among researchers who have conducted Aboriginal and Torres Strait Islander health and medical research.
Research
Circulating epigenomic biomarkers correspond with kidney disease susceptibility in high-risk populations with type 2 diabetes mellitusTo investigate epigenomic indices of diabetic kidney disease (DKD) susceptibility among high-risk populations with type 2 diabetes mellitus.
Research
Exploring self-determined solutions to service and system challenges to promote social and emotional wellbeing in Aboriginal and Torres Strait Islander people: a qualitative studyMany Aboriginal and Torres Strait Islander people living on Kaurna Country in northern Adelaide experience adverse health and social circumstances. The Taingiwilta Pirku Kawantila study sought to understand challenges facing Aboriginal and Torres Strait Islander communities and identify solutions for the health and social service system to promote social and emotional wellbeing.
Research
Equity, diversity, and inclusion at the Global Alliance for Genomics and HealthA lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed.
News & Events
New funding targets diabetes and heart disease health service gapsResearchers will work with Aboriginal & Torres Strait Islander women in SA to devise better ways to care for women at risk of pregnancy complications caused by diabetes and cardiovascular disease.