The complete sequence of a human genome

@article{Nurk2021TheCS,
  title={The complete sequence of a human genome},
  author={Sergey Nurk and Sergey Koren and Arang Rhie and Mikko Rautiainen and Andrey V. Bzikadze and Alla Mikheenko and Mitchell R. Vollger and Nicolas Altemose and Lev I Uralsky and Ariel Gershman and Sergey S. Aganezov and Savannah J Hoyt and Mark E. Diekhans and Glennis A. Logsdon and Michael Alonge and Stylianos E. Antonarakis and Matthew Borchers and Gerard G. Bouffard and Shelise Y. Brooks and Gina V. Caldas and Haoyu Cheng and Chen-Shan Chin and William Chow and Leonardo Gomes de Lima and Philip C. Dishuck and Richard Durbin and Tatiana Dvorkina and Ian T. Fiddes and Giulio Formenti and Robert S. Fulton and Arkarachai Fungtammasan and Erik K. Garrison and Patrick G S Grady and Tina A Graves-Lindsay and Ira M. Hall and Nancy F. Hansen and Gabrielle Hartley and Marina Haukness and Kerstin Howe and Michael W. Hunkapiller and Chirag Jain and Miten Jain and Erich D. Jarvis and Peter Kerpedjiev and Melanie Kirsche and Mikhail Kolmogorov and Jonas Korlach and Milinn Kremitzki and Heng Li and Valerie V B Maduro and Tobias Marschall and Ann M. McCartney and Jennifer McDaniel and Danny E. Miller and Jim Mullikin and Eugene Wimberly Myers and Nathan D. Olson and Benedict J. Paten and Paul Peluso and Pavel A. Pevzner and David Porubsky and Tamara Potapova and Evgeny I. Rogaev and Jeffrey A. Rosenfeld and Steven L. Salzberg and Valerie A. Schneider and Fritz J. Sedlazeck and Kishwar Shafin and Colin J. Shew and Alaina Shumate and Yumi Sims and Arian F. A. Smit and Daniela C. Soto and Ivan Sovi{\'c} and Jessica M. Storer and Aaron M. Streets and Beth A. Sullivan and Françoise Thibaud-Nissen and James Torrance and Justin Wagner and Brian P. Walenz and Aaron M. Wenger and Jonathan M. D. Wood and Chunlin Xiao and Stephanie M. Yan and Alice C Young and Samantha Zarate and Urvashi Surti and Rajiv C. McCoy and Megan Y. Dennis and Ivan A. Alexandrov and Jennifer L. Gerton and Rachel J. O’Neill and Winston Timp and Justin M. Zook and Michael C. Schatz and Evan E. Eichler and Karen H. Miga and Adam M. Phillippy},
  journal={Science (New York, N.Y.)},
  year={2021},
  volume={376},
  pages={44 - 53}
}
In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and the updates that followed effectively covered the euchromatic fraction of the genome, the heterochromatin and many other complex regions were left unfinished or erroneous. Addressing this remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium has finished the first truly complete 3… 
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The near-complete sequence reported here should serve as a firm foundation for biomedical research in the decades ahead and greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death.
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A complete reference genome improves analysis of human genetic variation
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T2T-CHM13 improves the Mendelian concordance rate among trios and eliminates tens of thousands of spurious SNVs per sample, including a reduction of false positives in 269 challenging, medically relevant genes by up to a factor of 12.
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Using a complete telomere-to-telomere human genome (T2T-CHM13), a comprehensive view of human segmental duplications (SDs) is presented and patterns of structural heterozygosity and evolutionary differences in SD organization between humans and other primates are revealed.
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