Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...

Researchers have demonstrated a specific type of genetic variation in obsessive-compulsive disorder (OCD) for the first time using advanced DNA sequencing technology. The findings support previous ...

Clinicians' ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing to disease risk. A study published September 2 nd in the open-access journal ...

DNA is the blueprint of life. Genes encode proteins and serve as the body's basic components. However, building a functioning ...

For more than a century, Mendelian genetics has shaped how we think about inheritance: one gene, one trait. It is a model that still echoes through textbooks—and one that is increasingly reaching its ...

The human genome is organised in 46 chromosomes, where all but the x and y chromosomes in men are present in two copies. This means that a person with a faulty gene on one chromosome most often has a ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Genetic variation underpins the diversity observed within and among species, while genomic analysis provides the framework to unravel the complexity of these variations. Advances in high‐throughput ...

Two naturally mummified individuals buried roughly 7,000 years ago in a Libyan rock shelter have yielded ancient genomes that reveal a previously unknown, long-isolated North African lineage. The ...

Research into genetic variation and wool traits in sheep and goats has revealed critical insights into the structural composition and quality of animal fibres. Studies have focused on ...

An international research collaboration has shed new light on how DNA sequence variation can influence gene activity in the developing human brain. The team, which was led by researchers at the ...