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 ...

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 ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

A research team led by Zhiping Weng, Ph.D., and Jill Moore, Ph.D."18, at UMass Chan Medical School, has nearly tripled the ...

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 ...

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 ...

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 ...

A new genome-wide study uncovers evidence of the first three-way relationships between human genetic variation, variation in the fungal component of the human microbiome - known as the mycobiome - and ...

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 ...

Researchers have used a new human reference genome, which includes many duplicated and repeat sequences left out of the original human genome draft, to identify genes that make the human brain ...