Garvan Institute of Medical Research
Sarcoma Susceptibility Traced to Telomere Function, Mitotic Pathways
A search for rare sarcoma-related germline variants led to centromere and shelterin genes involved in mitotic function and telomere regulation, respectively.
Triple-Negative Breast Cancer Treatment Hints Drawn From Single-Cell Study
Tumor microenvironment cell transcriptomes pointed to four stromal cell clusters, including immune interacting support cells predicted to impact immunotherapy response.
GnomAD Consortium Details Range of Human Genetic Variation From Large Dataset
The collection of more than 125,000 exomes and 15,000 genomes has enabled an analysis of loss-of-function variants, may help diagnose rare disease, and guide drug development.
Genomes of Healthy Elderly Show Fewer Disease-Linked Variants
The Medical Genome Reference Bank, which currently holds data for more than 2,500 healthy elderly Australians, could help scientists understand the genetics of healthy aging.
Mitochondrial DNA Analysis Uncovers Human 'Homeland' in Southern Africa
By combining mitochondrial DNA and climatic data, an international team of researchers found that an early mitochondrial lineage emerged in a paleo-wetland.