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The complete sequence of a human Y chromosome.
Rhie, Arang; Nurk, Sergey; Cechova, Monika; Hoyt, Savannah J; Taylor, Dylan J; Altemose, Nicolas; Hook, Paul W; Koren, Sergey; Rautiainen, Mikko; Alexandrov, Ivan A; Allen, Jamie; Asri, Mobin; Bzikadze, Andrey V; Chen, Nae-Chyun; Chin, Chen-Shan; Diekhans, Mark; Flicek, Paul; Formenti, Giulio; Fungtammasan, Arkarachai; Garcia Giron, Carlos; Garrison, Erik; Gershman, Ariel; Gerton, Jennifer L; Grady, Patrick G S; Guarracino, Andrea; Haggerty, Leanne; Halabian, Reza; Hansen, Nancy F; Harris, Robert; Hartley, Gabrielle A; Harvey, William T; Haukness, Marina; Heinz, Jakob; Hourlier, Thibaut; Hubley, Robert M; Hunt, Sarah E; Hwang, Stephen; Jain, Miten; Kesharwani, Rupesh K; Lewis, Alexandra P; Li, Heng; Logsdon, Glennis A; Lucas, Julian K; Makalowski, Wojciech; Markovic, Christopher; Martin, Fergal J; Mc Cartney, Ann M; McCoy, Rajiv C; McDaniel, Jennifer; McNulty, Brandy M.
  • Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Cechova M; Oxford Nanopore Technologies Inc., Oxford, UK.
  • Hoyt SJ; Faculty of Informatics, Masaryk University, Brno, Czech Republic.
  • Taylor DJ; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Altemose N; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Hook PW; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
  • Koren S; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
  • Rautiainen M; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Alexandrov IA; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Allen J; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Asri M; Federal Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
  • Bzikadze AV; Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.
  • Chen NC; Department of Anatomy and Anthropology and Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel.
  • Chin CS; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Diekhans M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Flicek P; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA.
  • Formenti G; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Fungtammasan A; GeneDX Holdings Corp, Stamford, CT, USA.
  • Garcia Giron C; Foundation of Biological Data Science, Belmont, CA, USA.
  • Garrison E; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Gershman A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Gerton JL; Department of Genetics, University of Cambridge, Cambridge, UK.
  • Grady PGS; The Rockefeller University, New York, NY, USA.
  • Guarracino A; DNAnexus, Inc., Mountain View, CA, USA.
  • Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Halabian R; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Hansen NF; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Harris R; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Hartley GA; University of Kansas Medical Center, Kansas City, MO, USA.
  • Harvey WT; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Haukness M; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Heinz J; Genomics Research Centre, Human Technopole, Milan, Italy.
  • Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Hubley RM; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
  • Hunt SE; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Hwang S; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Jain M; Department of Biology, Pennsylvania State University, University Park, PA, USA.
  • Kesharwani RK; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Li H; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Logsdon GA; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Lucas JK; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Makalowski W; Institute for Systems Biology, Seattle, WA, USA.
  • Markovic C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Martin FJ; XDBio Program, Johns Hopkins University, Baltimore, MD, USA.
  • Mc Cartney AM; Department of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA.
  • McCoy RC; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
  • McDaniel J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • McNulty BM; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Nature ; 621(7978): 344-354, 2023 Sep.
Article en En | MEDLINE | ID: mdl-37612512
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1-3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a previous assembly of the CHM13 genome4 and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Genómica / Cromosomas Humanos Y Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Genómica / Cromosomas Humanos Y Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article