The complete sequence of a human genome
Sergey Nurk(National Institutes of Health), Sergey Koren(National Institutes of Health), Arang Rhie(National Institutes of Health), Mikko Rautiainen(National Institutes of Health), Andrey V. Bzikadze(University of California San Diego), Alla Mikheenko(St Petersburg University), Mitchell R. Vollger(University of Washington), Nicolas Altemose(University of California, Berkeley), Lev Uralsky(Sirius University of Science and Technology), Ariel Gershman(Johns Hopkins University), Sergey Aganezov(Johns Hopkins University), Savannah J. Hoyt(University of Connecticut), Mark Diekhans(University of California, Santa Cruz), Glennis A. Logsdon(University of Washington), Michael Alonge(Johns Hopkins University), Stylianos E. Antonarakis(University of Geneva), Matthew Borchers(Stowers Institute for Medical Research), Gerard G. Bouffard(National Institutes of Health), Shelise Brooks(National Institutes of Health), Gina V. Caldas(University of California, Berkeley), Nae-Chyun Chen(Johns Hopkins University), Haoyu Cheng(Harvard University), Chen-Shan Chin(DNAnexus (United States)), William Chow(Wellcome Sanger Institute), Leonardo Gomes de Lima(Stowers Institute for Medical Research), Philip C. Dishuck(University of Washington), Richard Durbin(University of Cambridge), Tatiana Dvorkina(St Petersburg University), Ian T. Fiddes, Giulio Formenti(Howard Hughes Medical Institute), Robert S. Fulton(Washington University in St. Louis), Arkarachai Fungtammasan(DNAnexus (United States)), Erik Garrison(University of Tennessee Health Science Center), Patrick G. S. Grady(University of Connecticut), Tina A. Graves-Lindsay(James S. McDonnell Foundation), Ira M. Hall(Yale University), Nancy F. Hansen(National Institutes of Health), Gabrielle A. Hartley(University of Connecticut), Marina Haukness(University of California, Santa Cruz), Kerstin Howe(Wellcome Sanger Institute), Michael W. Hunkapiller(Pacific Biosciences (United States)), Chirag Jain(National Institutes of Health), Miten Jain(University of California, Santa Cruz), Erich D. Jarvis(Howard Hughes Medical Institute), Peter Kerpedjiev, Melanie Kirsche(Johns Hopkins University), Mikhail Kolmogorov(University of California San Diego), Jonas Korlach(Pacific Biosciences (United States)), Milinn Kremitzki(James S. McDonnell Foundation), Heng Li(Harvard University), Valerie V. Maduro(National Institutes of Health), Tobias Marschall(Heinrich Heine University Düsseldorf), Ann M. Mc Cartney(National Institutes of Health), Jennifer McDaniel(National Institute of Standards and Technology), Danny E. Miller(Seattle Children's Hospital), James C. Mullikin(National Institutes of Health), Eugene W. Myers(Max Planck Institute of Molecular Cell Biology and Genetics), Nathan D. Olson(National Institute of Standards and Technology), Benedict Paten(University of California, Santa Cruz), Paul Peluso(Pacific Biosciences (United States)), Pavel A. Pevzner(University of California San Diego), David Porubskỳ(University of Washington), Tamara Potapova(Stowers Institute for Medical Research), Е. И. Рогаев(University of Massachusetts Chan Medical School), Jeffrey Rosenfeld(Cancer Institute of Florida), Steven L. Salzberg(Johns Hopkins University), Valérie Schneider(National Institutes of Health), Fritz J. Sedlazeck(Baylor College of Medicine), Kishwar Shafin(University of California, Santa Cruz), Colin J. Shew(University of California, Davis), Alaina Shumate(Johns Hopkins University), Ying Sims(Wellcome Sanger Institute), Arian F. A. Smit(Institute for Systems Biology), Daniela C. Soto(University of California, Davis), Ivan Sović(Pacific Biosciences (United States)), Jessica M. Storer(Institute for Systems Biology), Aaron Streets(Chan Zuckerberg Initiative (United States)), Beth A. Sullivan(Duke University), Françoise Thibaud‐Nissen(National Institutes of Health), James Torrance(Wellcome Sanger Institute), Justin Wagner(National Institute of Standards and Technology), Brian P. Walenz(National Institutes of Health), Aaron M. Wenger(Pacific Biosciences (United States)), Jonathan Wood(Wellcome Sanger Institute), Chunlin Xiao(National Institutes of Health), Stephanie M. Yan(Johns Hopkins University), Alice Young(National Institutes of Health), Samantha Zarate(Johns Hopkins University), Urvashi Surti(University of Pittsburgh), Rajiv C. McCoy(Johns Hopkins University), Megan Y. Dennis(University of California, Davis), Ivan A. Alexandrov(Russian Academy of Sciences), Jennifer L. Gerton(Stowers Institute for Medical Research), Rachel J. O’Neill(University of Connecticut), Winston Timp(Johns Hopkins University), Justin M. Zook(National Institute of Standards and Technology), Michael C. Schatz(Johns Hopkins University), Evan E. Eichler(Howard Hughes Medical Institute), Karen H. Miga(University of California, Santa Cruz), Adam M. Phillippy(National Institutes of Health)
Cited by 3,281Open Access
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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