The UC Santa Cruz Genomics Institute has received a $2 million grant from the W. M. Keck Foundation for ongoing research to develop a comprehensive map of human genetic variation. The Human Genome ...

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 ...

Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

AlphaGenome is a DNA sequence model that advances regulatory variant-effect prediction to understand genome function.

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 ...

The past decade has delivered landmark advances in human and medical genomics that shape how we understand disease mechanisms ...

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 ...

Scientists have cracked open some of the most mysterious corners of our DNA, revealing that parts of the human genome mutate at a far faster pace than previously imagined. By studying four generations ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought. The ...

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, ...