Researchers have created the largest atlas of post-zygotic genome mutations in healthy human tissue ever assembled -- a scientific advancement that could unlock new avenues for diagnosing and treating ...

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 ...

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

A microfluidic device barely larger than a U.S. quarter and developed by a Rutgers University-led team can detect rare genetic mutations from a single drop of blood. A team led by Rutgers ...

For patients with disorders such as autism and schizophrenia, mutations in the same gene could require different treatments, according to new research from Yale School of Medicine (YSM). Many ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...