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 ...

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 ...

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 ...

NIH funding has allowed scientists to see the DNA blueprints of human life—completely. In 2022, the Telomere-to-Telomere Consortium, a group of NIH-funded scientists from research institutions around ...

Every cancer carries a unique genetic fingerprint: variations in DNA known as “somatic variants” that occur in tumor DNA but are absent from the patient’s healthy cells. While some cancers may also ...

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 ...

The Next Generation Sequencing (NGS) field has been in constant flux since a wave of newcomers entered the field several years ago that changed the game. The startups offered sequencing users new ...

If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health ...