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

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

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 identifies disease-causing genetic mutations but also predicts the type of ...

Mount Sinai scientists built V2P, an AI that links DNA mutations to likely disease types before symptoms appear, speeding ...

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 ...

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 ...

Explore the new AI model that links genetic mutations to disease outcomes, revolutionising genetic diagnosis and treatment.

A review article led by researchers from the B·ARGO group at the Germans Trias i Pujol Research Institute (IGTP) and from the ...

Tiffany Fransen's lifelong clumsiness turned out to be a rare neurodegenerative disease. Friedreich’s ataxia leads to muscle ...

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 ...