A sperm donor with a rare genetic mutation linked to an increased risk of developing cancer fathered at least 197 children across Europe, some of whom have already died from the disease, according to ...

A new study reports that the locations where genes begin are particularly prone to mutations, and these genetic changes can ...

Scientists have revealed parts of the genome that are especially vulnerable to mutations that occur very early on in ...

Because only part of the man's sperm carried the mutation, only the second round of genetic testing revealed the problem. By ...

A genomic analysis shows that transcription start sites are 35% more mutation-prone than expected, making them one of the genome’s most vulnerable regions. Many of these errors arise as mosaic ...

Friedreich's ataxia (FA) is a rare but devastating genetic disorder. Those with the condition are often diagnosed between 5 ...

EVE combines evolutionary insights with human population data to identify damaging genetic mutations, improving variant ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...

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 ...