Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and…
When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all avai…
Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousa…
Type-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances…
Due to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on p…
In Australia, cancer medicine is increasingly guided by our expanding knowledge of cancer genomics (the study of genetic information) and biology. Pe…
Acute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression an…
The specific role of chromatin modifying factors in the timely execution of transcriptional changes in gene expression to regulate organ size remains…
Chronic obstructive pulmonary disease (COPD) results from gene-environment interactions over the lifetime. These interactions are captured by epigene…
The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of…