The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical an…
Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The Int…
Uveal melanoma is a rare melanoma originating in the eye's uvea, with 50% of patients experiencing metastasis predominantly in the liver. In contrast…
Trailblazing Aboriginal doctor and health researcher Professor Alex Brown has been made a Fellow of the Australian Academy of Technological Sciences…
Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must…
Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perfo…
The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown becaus…
Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-re…
Several The Kids Research Institute Australia researchers will share in more than $7.5 million in prestigious Investigator Grants to pursue a range o…
Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain s…