Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing ...

Explore the new AI model that links genetic mutations to disease outcomes, revolutionising genetic diagnosis and treatment.

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

Around 25 million Americans have a rare genetic disease, and many of them struggle with not only a lack of effective treatments, but also a lack of good information about their disease. Clinicians may ...

This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.

EVE combines evolutionary insights with human population data to identify damaging genetic mutations, improving variant ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...

Human eggs appear to be protected against a certain type of age-related mutation. In a small study, researchers found no signs that mutations accumulate in the mitochondrial DNA of human egg cells as ...