Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

A new study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome--one that contributes to many genetic diseases, including cancer. A ...

In a big leap for genomics, Google on Wednesday unveiled a powerful AI model that predicts how single DNA mutations affect the complex machinery regulating gene activity. Named AlphaGenome, the tool ...

Characteristics of Clonal Hematopoiesis (CH) Mutations - a) We identified somatic mutations in known clonal hematopoiesis of indeterminate potential (CHIP) driver genes using peripheral blood ...

Two siblings who have the only known mutations in a key gene anywhere in the world have helped scientists gain new insights that could help progress the search for new treatments in type 1 diabetes.

Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide ...

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 ...

After nearly 40 years, a new study has found that children of Chernobyl workers have mutations within their DNA ...

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 ...