His method of locating genes in human DNA allowed researchers to find disease-causing genes, and later to map the entire, sprawling human genome.

Innovative study of DNA's hidden structures may open up new approaches for treatment and diagnosis of diseases, including cancer. DNA is well-known for its double helix shape. But the human genome ...

Cutting-edge DNA mapping technology identified new genetic information that can help researchers decipher more genetic diseases, a new study found. The research will be presented at the Pediatric ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate constellations of DNA variants acting together in specific cells. Now a new ...

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 ...

The Human Genome Project changed everything. A map of the entire human sequence of DNA was the starting point for an enormous number of discoveries, from disease genes to how humans evolved. But DNA ...

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 ...

Researchers have developed a comprehensive atlas that maps DNA methylation—a critical chemical modification governing gene activity—across 39 human cell types, revealing a complex landscape of ...

Researchers identify a gene expression program in the living human brain that tracks with real-time neurotransmission, bridging the gap between genetics and electrical brain activity.