Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

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

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

A research team in Japan has developed an innovative system that can accurately detect genetic mutations in the brain tumor within just 25 minutes. Genetic mutations are crucial markers for diagnosis ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

Tel Aviv University researchers have made a remarkable discovery that could revolutionize our understanding of genetic mutations and their role in brain development. The study, published today in ...

A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...

During development of the digestive system, a complex network of nerves forms around it, creating a "second brain"—the ...

Some fungi live up to 2,500 years thanks to an internal system that eliminates harmful cells and prevents genetic mutations.