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

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 ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum ...

Medically reviewed by Jeffrey S. Lander, MD Key Takeaways There is a hereditary form of transthyretin amyloid cardiomyopathy (ATTR-CM) caused when a mutated gene is passed from parent to child.Having ...

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 ...

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 ...

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 ...

A new study published in Science is challenging long-held assumptions about how we measure genetic risk in endangered species. Researchers analyzed whole genomes from hundreds of koalas, finding that ...

Khaberni - Nearly four decades after the 1986 Chernobyl nuclear reactor disaster, a new study reveals clear evidence of some effects of radiation exposure being passed to the next generation. Research ...