The research represents a major step forward in revealing how the three dimensional form of DNA shapes the way human biology functions. In a major step toward understanding how the physical form of ...

Discover how hidden complexities of the human genome are revealed by scientists from The Jackson Laboratory. Technological advancements are now allowing us to assemble continuous genomes with ...

UC Santa Cruz has a long history of pioneering advances in genomics research. The first working draft of a human genome sequence was assembled on our campus in 2000, which has led to enormous leaps in ...

In 2003, the Human Genome Project made history by sequencing 92 percent of the human genome, which created breakthroughs in medicine such as the ability to identify specific mutations that may lead to ...

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 ...

Twenty-two years after the completion of the Human Genome Project, scientists have unveiled the most expansive catalog of human genetic variation ever compiled. Across two new papers published ...

Scientists at deCODE genetics/Amgen have constructed a complete map of how human DNA is mixed as it is passed down during reproduction. The map marks a major step in the understanding of genetic ...