BETHESDA, Md. — Your body is quietly collecting genetic changes right now, and scientists want to map every single one. A massive new research network is launching the most ambitious genetic study ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

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

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

A newly developed AI can predict which diseases specific genetic mutations are likely to cause, not just whether they are ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, unlocking faster diagnoses and new targets for therapy.

A new study suggests that the mitochondria in human egg cells don't accumulate DNA mutations with age, which sets them apart from other tissues in the body. When you purchase through links on our site ...

A new gene editor takes advantage of CRISPR-associated proteins to insert whole genes into the genome, scientists report. When you purchase through links on our site, we may earn an affiliate ...