Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide ...

Australian researchers have discovered that a single mutation in the DNA sequence for a methylation enzyme dysregulates key tumor-suppressing pathways, opening up new avenues for blood cancer ...

Scientists say they have found a pattern of so-called epigenetic 'marks' in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a ...

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

These sequences are extremely prone to mutations and rank among the most functionally important regions in the entire human ...

Scientists have revealed parts of the genome that are especially vulnerable to mutations that occur very early on in development. These areas are in the initial portions of genes, where the cell tends ...

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

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

“A blessing and a curse” is how Harry Aikines-Aryeetey describes the genetic quirk that means his body carries more muscle ...