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 ...

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 ...

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

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 ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

Before Todd Leach lost his father to a rare, aggressive form of stomach cancer, his dad gave him one last gift: a genetic ...

A previously unknown type of DNA damage in the mitochondria, the tiny power plants inside our cells, could shed light on how our bodies sense and respond to stress. The findings of the UC ...

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 ...