Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new ...

Ancient DNA is turning human prehistory into something startlingly intimate. Instead of a clean handoff from one species to another, the last 50,000 years look more like a long, tangled story of ...

Twenty-two years after the completion of the Human Genome Project, scientists have unveiled the most expansive catalog of human genetic variation ever compiled. Across two new papers published ...

DNA's double helix has long stood as the symbol of life’s code. But buried within the genome lies a deeper level of complexity. One of the more intriguing discoveries in recent years is the i-motif—a ...

Research co-led by King's College London and Sidra Medicine, Qatar, has produced the most detailed map to date of large-scale ...

Sometimes, a small error in the sequence of DNA can lead to a very serious disease. Scientists have identified many mutations that arise in a single gene to cause an ...

A new study shows that cancer damages its own DNA by pushing key genes to work too hard. Researchers found that the most ...

The visible effects of ageing on our body are in part linked to invisible changes in gene activity. The epigenetic process of DNA methylation — the addition or removal of tags called methyl groups — ...

This image depicts the detection of structural variants (SVs) at low sequencing coverage in both unique and repetitive regions by genomic proximity mapping (GPM), compared with other SV-calling ...