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 ...

The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coordination, mobility, and their ability to ...

Translocations, in genetics, happen when chromosomes break and the pieces attach to other chromosomes. This mixing of genetic material has important results. The resultant chromosomes are lacking in ...

The centromere is necessary for the transport of chromosomes during cell division and, therefore, for the correct ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

At 47, Todd Leach learned he carries a genetic mutation that significantly raised his risk for a rare stomach cancer. He had ...