A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

An estimated 170,000 Australians were diagnosed with cancer in 2025. Many people know the causes of cancer are partly genetic. But how do your genes, which contribute so much of what makes you you, ...

Tests in 1,225 patients with the most deadly form of skin cancer reveal for the first time a genetic trait among most of those who did not respond to the latest cancer treatments, known as immune ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

After learning that they carry a mutated version of the BRCA1 gene, their options were to undergo intensive monitoring every six months or to have preventive surgeries involving profound changes to th ...

A group of researchers led by The University of Osaka have identified a novel genetic mutation in Streptococcus pyogenes, a common bacterium which causes strep throat, significantly associated with ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...