Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Around 200 children in several countries were conceived with sperm from a single donor carrying a rare genetic mutation ...

A single sperm donor who carries a rare cancer-causing genetic mutation has fathered at least 197 children across 14 ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

The analysis revealed that about 2 per cent of sperm from men in their early 30s contained disease-causing mutations. That ...

Researchers have discovered how orange cats got their coats — and why so many of them are male. The coat color comes from a genetic mutation on the X chromosome of orange, calico and tortoiseshell ...