Optical genome mapping: hidden structural variants in families with inherited retinal diseases Kornelia Neveling1,3, Zeinab Fadaie1,2, Suzanne de Bruijn1,2, Tuomo Mantere1, Ronny Derks1, Lonneke ...

Researchers screened more than 220,000 single-letter DNA changes, identifying thousands that regulate gene activity in brain, liver, and blood cells. The work sharpens disease risk prediction and ...

Researchers have changed the way to look at DNA. They show that DNA is much more than a linear sequence of building blocks; it has a 3D structure that influences the variation of human genome-wide ...

How does our DNA store the massive amount of information needed to build a human being? And what happens when it's stored incorrectly? Jesse Dixon, MD, Ph.D., has spent years studying the way this ...

It’s called a pangenome, and it could explain the DNA that makes each of us unique. The joke about the Human Genome Project is how many times it’s been finished, but not actually. The first time was ...

A new Alzheimer's study has produced a first-of-its-kind genetic map, which could provide vital insights into the cause-and-effect sequences of gene activity that may be driving the disease in the ...