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RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)

RNA-sequencing (RNA-seq) efforts in acute lymphoblastic leukaemia have identified numerous prognostically significant genomic alterations which can g…

Prestigious fellowship for pioneering researcher

Aleksandra Filipovska has been elected a Fellow of the Australian Academy of Health and Medical Sciences.

Recovery of chloroplast genomes from medieval millet grains excavated from the Areni-1 cave in southern Armenia

Panicum miliaceum L. was domesticated in northern China at least 7000 years ago and was subsequentially adopted in many areas throughout Eurasia. One…

National network to significantly improve health outcomes for Indigenous Australians

A new national network will be established to advance the benefits from Genomic Medicine for Aboriginal and Torres Strait Islander people living in A…

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

Globally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achievin…

Common data elements to standardize genomics studies in cerebral palsy

To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate d…

People with Cerebral Palsy and Their Family's Preferences about Genomics Research

The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, inclu…

A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identifi…