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.

Scientists have created a new artificial intelligence (AI) tool that can find genetic mutations that cause disease and ...

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 ...

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 ...

Blood type A(B) is caused by a four gene mutations and was discovered when the blood of patients and donors was being studied ...

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 ...

European fertility clinics used cancer-causing sperm for 17 years, prompting urgent calls for genetic screening reforms and ...

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 ...

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 ...