Global Team Releases Most Complete Human Pangenome and Maps 175,000 Structural Variants

Complex genetic variation in nearly complete human genomes

Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here we sequence 65 diverse human genomes and build 130 haplotype-resolved assemblies (median continuity of 130 Mb), closing 92% of all previous assembly gaps1,2 and reaching telomere-to-telomere status for 39% of the chromosomes. We highlight complete sequence continuity of complex loci, including …

Best-ever map of the human genome yields new information on 'jumping genes,' 'junk DNA' and more

In a pair of papers, scientists greatly expanded our catalog of known genomic variation among humans. 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 Wednesday (July 23) in the journal Nature, scientists sequenced the DNA of 1,084 people around the world. They leveraged recent technological advancements…

Your DNA Is Full of Ancient Viruses – And They’re Running the Show

Once dismissed as “junk,” pieces of ancient viral DNA in our genome are now known to help control which genes are turned on or off.

Dubai Health scientists publish first Arab Pangenome Reference, marking a milestone for precision medicine

Scientists at the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), the learning and discovery arm of Dubai Health, have published the first Arab Pangenome Reference, marking a major milestone in both regional and global genomic research. The study, released in Nature Communications, a leading scientific journal, provides a crucial foundation for advancing precision medicine and personalised healthcare for Arab populations, …

Stubborn, overlooked regions of the human genome decoded

Credit: Daniela Velasco/EMBL It’s been more than 2 decades since the human genome was mapped for the first time. This achievement, while tremendous at the time, was based on the DNA of only a handful of people and left important regions fragmented. Scientists have worked diligently to improve the human reference genome since then. In 2022, the first complete sequence of a single human genome filled in many of the remaining gaps. In 2023, the hum…

Best-ever map of the human genome sheds light on 'jumping genes,' 'junk DNA' and more

In a pair of papers, scientists greatly expanded our catalog of known genomic variation among humans.