In the 1980s, there was growing enthusiasm about the prospect of mapping and sequencing the human genome, a monumental project that would have far-reaching consequences for medicine, biology, ...

The genome is more than a linear code; it is a dynamic structure whose three-dimensional folding dictates how genes are regulated. Traditional sequencing technologies capture base-level variation but ...

A research team led by Zhiping Weng, Ph.D., and Jill Moore, Ph.D."18, at UMass Chan Medical School, has nearly tripled the known number of potential regulatory elements in the genome to 2.37 million, ...

Rare diseases, defined in the U.S. as conditions affecting fewer than 200,000 people, can take years, if not decades, to diagnose. About 10,000 rare diseases affect 30 million Americans, and half of ...

Cornell (NY, USA) researchers have found that a new DNA sequencing technology can be used to study how transposons move within and bind to the genome. Transposons play critical roles in immune ...

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...