The complete sequence of a human genome

Abstract

Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion–base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.

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Affiliated Institutions

• University of California, Berkeley US
• Harvard University US
• Max Planck Institute of Molecular Cell Biology and Genetics DE
• Institute for Systems Biology US
• University of Tennessee Health Science Center US
• University of Massachusetts Chan Medical School US
• University of Connecticut US
• University of Cambridge GB
• James S. McDonnell Foundation US
• Yale University US
• University of Geneva CH
• Rockefeller University US
• Indian Institute of Science Bangalore IN
• University of California, Davis US
• DNAnexus (United States) US
• Stowers Institute for Medical Research US
• University of Kansas US
• Howard Hughes Medical Institute US
• Duke University US
• Rutgers Cancer Institute
• Cancer Genetics (United States) US
• Baylor College of Medicine US
• National Human Genome Research Institute US
• Chan Zuckerberg Initiative (United States) US
• National Institutes of Health US
• Seattle Children's Hospital US
• Heinrich Heine University Düsseldorf DE
• National Institute of Standards and Technology US
• University of California, Santa Cruz US
• University of Pittsburgh US
• Russian Academy of Sciences RU
• Sirius University of Science and Technology RU
• University of California, San Diego US
• St Petersburg University RU
• Dana-Farber Cancer Institute US
• Cancer Institute of Florida US
• Wellcome Sanger Institute GB
• University of Washington US
• Vavilov Institute of General Genetics RU
• Johns Hopkins University US
• Washington University in St. Louis US
• Pacific Biosciences (United States) US
• Lomonosov Moscow State University RU
• National Center for Biotechnology Information US

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