Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

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

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

A team of researchers at the Icahn School of Medicine at Mount Sinai has uncovered why children with the same ...

The difference between hereditary (germline) and acquired (somatic) gene mutations in cancer can lead to much confusion. This is especially true if you’re hearing about genetic testing for a genetic ...

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 ...

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 ...

They are genes commonly associated with breast cancer in women, but in fact men who carry certain mutations in their BRCA1 or BRCA2 genes are at higher risk of developing certain types of cancer ...