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Long-read sequence assembly of the gorilla genome.
Gordon, David; Huddleston, John; Chaisson, Mark J P; Hill, Christopher M; Kronenberg, Zev N; Munson, Katherine M; Malig, Maika; Raja, Archana; Fiddes, Ian; Hillier, LaDeana W; Dunn, Christopher; Baker, Carl; Armstrong, Joel; Diekhans, Mark; Paten, Benedict; Shendure, Jay; Wilson, Richard K; Haussler, David; Chin, Chen-Shan; Eichler, Evan E.
Affiliation
  • Gordon D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Huddleston J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Chaisson MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Hill CM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Kronenberg ZN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Malig M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Raja A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Fiddes I; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA.
  • Hillier LW; McDonnell Genome Institute, Department of Medicine, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA.
  • Dunn C; Pacific Biosciences of California, Menlo Park, CA 94025, USA.
  • Baker C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Armstrong J; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA.
  • Diekhans M; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA.
  • Paten B; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA.
  • Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Wilson RK; McDonnell Genome Institute, Department of Medicine, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA.
  • Haussler D; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA.
  • Chin CS; Pacific Biosciences of California, Menlo Park, CA 94025, USA.
  • Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. eee@gs.washington.edu.
Science ; 352(6281): aae0344, 2016 Apr 01.
Article in En | MEDLINE | ID: mdl-27034376
ABSTRACT
Accurate sequence and assembly of genomes is a critical first step for studies of genetic variation. We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm. The new assembly improves contiguity by two to three orders of magnitude with respect to previously released assemblies, recovering 87% of missing reference exons and incomplete gene models. Although regions of large, high-identity segmental duplications remain largely unresolved, this comprehensive assembly provides new biological insight into genetic diversity, structural variation, gene loss, and representation of repeat structures within the gorilla genome. The approach provides a path forward for the routine assembly of mammalian genomes at a level approaching that of the current quality of the human genome.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sequence Analysis, DNA / Gorilla gorilla Limits: Animals / Female / Humans Language: En Journal: Science Year: 2016 Document type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sequence Analysis, DNA / Gorilla gorilla Limits: Animals / Female / Humans Language: En Journal: Science Year: 2016 Document type: Article Affiliation country: United States