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The complete sequence of a human genome.
Nurk, Sergey; Koren, Sergey; Rhie, Arang; Rautiainen, Mikko; Bzikadze, Andrey V; Mikheenko, Alla; Vollger, Mitchell R; Altemose, Nicolas; Uralsky, Lev; Gershman, Ariel; Aganezov, Sergey; Hoyt, Savannah J; Diekhans, Mark; Logsdon, Glennis A; Alonge, Michael; Antonarakis, Stylianos E; Borchers, Matthew; Bouffard, Gerard G; Brooks, Shelise Y; Caldas, Gina V; Chen, Nae-Chyun; Cheng, Haoyu; Chin, Chen-Shan; Chow, William; de Lima, Leonardo G; Dishuck, Philip C; Durbin, Richard; Dvorkina, Tatiana; Fiddes, Ian T; Formenti, Giulio; Fulton, Robert S; Fungtammasan, Arkarachai; Garrison, Erik; Grady, Patrick G S; Graves-Lindsay, Tina A; Hall, Ira M; Hansen, Nancy F; Hartley, Gabrielle A; Haukness, Marina; Howe, Kerstin; Hunkapiller, Michael W; Jain, Chirag; Jain, Miten; Jarvis, Erich D; Kerpedjiev, Peter; Kirsche, Melanie; Kolmogorov, Mikhail; Korlach, Jonas; Kremitzki, Milinn; Li, Heng.
Afiliación
  • Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA.
  • Mikheenko A; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
  • Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Altemose N; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
  • Uralsky L; Sirius University of Science and Technology, Sochi, Russia.
  • Gershman A; Vavilov Institute of General Genetics, Moscow, Russia.
  • Aganezov S; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
  • Hoyt SJ; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Diekhans M; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Logsdon GA; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
  • Alonge M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Antonarakis SE; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Borchers M; University of Geneva Medical School, Geneva, Switzerland.
  • Bouffard GG; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Brooks SY; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Caldas GV; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Chen NC; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
  • Cheng H; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Chin CS; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
  • Chow W; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  • de Lima LG; DNAnexus, Mountain View, CA, USA.
  • Dishuck PC; Wellcome Sanger Institute, Cambridge, UK.
  • Durbin R; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Dvorkina T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Fiddes IT; Wellcome Sanger Institute, Cambridge, UK.
  • Formenti G; Department of Genetics, University of Cambridge, Cambridge, UK.
  • Fulton RS; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
  • Fungtammasan A; Inscripta, Boulder, CO, USA.
  • Garrison E; Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
  • Grady PGS; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
  • Graves-Lindsay TA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
  • Hall IM; DNAnexus, Mountain View, CA, USA.
  • Hansen NF; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
  • Hartley GA; University of Tennessee Health Science Center, Memphis, TN, USA.
  • Haukness M; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Howe K; McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.
  • Hunkapiller MW; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Jain C; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Jain M; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Jarvis ED; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
  • Kerpedjiev P; Wellcome Sanger Institute, Cambridge, UK.
  • Kirsche M; Pacific Biosciences, Menlo Park, CA, USA.
  • Kolmogorov M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Korlach J; Department of Computational and Data Sciences, Indian Institute of Science, Bangalore KA, India.
  • Kremitzki M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
  • Li H; Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
Science ; 376(6588): 44-53, 2022 04.
Article en En | MEDLINE | ID: mdl-35357919
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Proyecto Genoma Humano / Análisis de Secuencia de ADN Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Science Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Proyecto Genoma Humano / Análisis de Secuencia de ADN Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Science Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos