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Telomere-to-telomere assembly of a complete human X chromosome.
Miga, Karen H; Koren, Sergey; Rhie, Arang; Vollger, Mitchell R; Gershman, Ariel; Bzikadze, Andrey; Brooks, Shelise; Howe, Edmund; Porubsky, David; Logsdon, Glennis A; Schneider, Valerie A; Potapova, Tamara; Wood, Jonathan; Chow, William; Armstrong, Joel; Fredrickson, Jeanne; Pak, Evgenia; Tigyi, Kristof; Kremitzki, Milinn; Markovic, Christopher; Maduro, Valerie; Dutra, Amalia; Bouffard, Gerard G; Chang, Alexander M; Hansen, Nancy F; Wilfert, Amy B; Thibaud-Nissen, Françoise; Schmitt, Anthony D; Belton, Jon-Matthew; Selvaraj, Siddarth; Dennis, Megan Y; Soto, Daniela C; Sahasrabudhe, Ruta; Kaya, Gulhan; Quick, Josh; Loman, Nicholas J; Holmes, Nadine; Loose, Matthew; Surti, Urvashi; Risques, Rosa Ana; Graves Lindsay, Tina A; Fulton, Robert; Hall, Ira; Paten, Benedict; Howe, Kerstin; Timp, Winston; Young, Alice; Mullikin, James C; Pevzner, Pavel A; Gerton, Jennifer L.
Afiliação
  • Miga KH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA. khmiga@ucsc.edu.
  • 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.
  • Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Gershman A; Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Bzikadze A; Graduate Program in Bioinformatics and Systems Biology, University of California San Diego, San Diego, CA, USA.
  • Brooks S; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Howe E; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
  • Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Wood J; Wellcome Sanger Institute, Hinxton, UK.
  • Chow W; Wellcome Sanger Institute, Hinxton, UK.
  • Armstrong J; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Fredrickson J; Department of Pathology, University of Washington, Seattle, WA, USA.
  • Pak E; Cytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Tigyi K; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Kremitzki M; McDonnell Genome Institute at Washington University, St Louis, MO, USA.
  • Markovic C; McDonnell Genome Institute at Washington University, St Louis, MO, USA.
  • Maduro V; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Dutra A; Cytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Bouffard GG; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Chang AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Hansen NF; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
  • Schmitt AD; Arima Genomics, San Diego, CA, USA.
  • Belton JM; Arima Genomics, San Diego, CA, USA.
  • Selvaraj S; Arima Genomics, San Diego, CA, USA.
  • Dennis MY; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.
  • Soto DC; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.
  • Sahasrabudhe R; DNA Technologies Core, Genome Center, University of California Davis, Davis, CA, USA.
  • Kaya G; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.
  • Quick J; Institute of Microbiology and Infection, University of Birmingham, Birmingham, UK.
  • Loman NJ; Institute of Microbiology and Infection, University of Birmingham, Birmingham, UK.
  • Holmes N; DeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.
  • Loose M; DeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.
  • Surti U; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
  • Risques RA; Department of Pathology, University of Washington, Seattle, WA, USA.
  • Graves Lindsay TA; McDonnell Genome Institute at Washington University, St Louis, MO, USA.
  • Fulton R; McDonnell Genome Institute at Washington University, St Louis, MO, USA.
  • Hall I; McDonnell Genome Institute at Washington University, St Louis, MO, USA.
  • Paten B; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Howe K; Wellcome Sanger Institute, Hinxton, UK.
  • Timp W; Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Young A; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Pevzner PA; Department of Computer Science and Engineering, University of California San Diego, San Diego, CA, USA.
  • Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.
Nature ; 585(7823): 79-84, 2020 09.
Article em En | MEDLINE | ID: mdl-32663838
ABSTRACT
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist1,2. Here we present a human genome assembly that surpasses the continuity of GRCh382, along with a gapless, telomere-to-telomere assembly of a human chromosome. This was enabled by high-coverage, ultra-long-read nanopore sequencing of the complete hydatidiform mole CHM13 genome, combined with complementary technologies for quality improvement and validation. Focusing our efforts on the human X chromosome3, we reconstructed the centromeric satellite DNA array (approximately 3.1 Mb) and closed the 29 remaining gaps in the current reference, including new sequences from the human pseudoautosomal regions and from cancer-testis ampliconic gene families (CT-X and GAGE). These sequences will be integrated into future human reference genome releases. In addition, the complete chromosome X, combined with the ultra-long nanopore data, allowed us to map methylation patterns across complex tandem repeats and satellite arrays. Our results demonstrate that finishing the entire human genome is now within reach, and the data presented here will facilitate ongoing efforts to complete the other human chromosomes.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Telômero / Cromossomos Humanos X Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Telômero / Cromossomos Humanos X Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos