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.

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 ...

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

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

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 ...

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

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

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 ...