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 ...

Researchers from the Faculty of Engineering at The University of Hong Kong (HKU) have developed two innovative deep-learning ...

For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to ...

In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska ...

Michigan Tech's Genomic Sequencing Lab, part of the University's Health Research Institute, plays a leading role in tracking animal-borne illnesses in the Upper Peninsula region while also advancing ...

Due to their repetitive and complex DNA sequences, centromeres have been viewed as the "black boxes" of the genome for decades. Often overlooked in sequencing projects but playing a critical role in ...

The Roundtable on Genomics and Precision Health hosted a public workshop to evaluate how evidence for genomic applications is gathered and assessed for clinical decision-making, reimbursement ...