American researchers have successfully completed the full sequencing of a human chromosome for the first time. This ...

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 ...

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 ...

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 ...

In 2003, the Human Genome Project made history when it sequenced 92% of the human genome. But for nearly two decades since, scientists have struggled to decipher the remaining 8%. Now, a team of ...

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 ...

When couples have trouble conceiving a baby or lose a pregnancy, they often undergo routine tests, which can turn up a shock: ...

WASHINGTON (AP) — The Smithsonian's National Museum of Natural History is developing its first major exhibit on the human genome with a $3 million pledge announced Monday from a biotechnology company.