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

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

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 ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...