Human genome milestone opens door for personalized genomics
Johns Hopkins UniversityPeer-Reviewed Publication
Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized genomics routine in medical care.
The work from the Telomere-to-Telomere (T2T) Consortium, led by researchers at Johns Hopkins University, the National Human Genome Research Institute (NHGRI), and the National Institute of Standards and Technology (NIST), establishes the most complete and highest quality human genome sequence ever constructed, filling critical gaps. The new approach allows any individual’s unique genome to be fully analyzed at much higher accuracy than the current standard, which excludes sequences that are different or missing from the historical reference genome.
- Journal
- Cell
- Funder
- National Institute of Standards and Technology, Department of Agriculture and Fisheries