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 ...

Completed in 2003, the Human Genome Project gave us the first sequence of the human genome, albeit based on DNA from a small handful of people. Building upon its success, the 1000 Genomes Project was ...

Veronica Paulus is a former STAT intern supported by the Harvard University Institute of Politics. Complex regions of the human genome remained uncharted, even after researchers sequenced the genome ...

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 ...

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 ...

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 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 ...

Today, we can sequence the entire genome of an individual for a few hundred pounds. Artificial intelligence (AI) has further ...

J. Craig Venter, PhD, left, President Bill Clinton, and Francis S. Collins, MD, PhD, The White House, June 26, 2000. [Mark Wilson/Newsmakers/Getty Images] The announcement of the first draft of the ...

A study published in the journal Science reveals how jumping fragments of human DNA, a type of genetic parasite, destabilize ...