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 ...

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 ...

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 ...

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

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 ...

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

A rare genetic mutation that causes a deficiency in an immune regulator called ISG15 is known to make people more vulnerable to some bacterial infections and cause persistent inflammation — but it can ...

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha ( HNF1A )-MODY due to a novel ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...