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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Armstrong, Joel Shendure, Jay Munson, Katherine M. Wilson, Richard K. Haussler, David Diekhans, Mark Paten, Benedict Gordon, David Eichler, Evan E. Hillier, Ladeana W. Huddleston, John Kronenberg, Zev N. Raja, Archana Malig, Maika Fiddes, Ian Chin, Chen-shan Chaisson, Mark J. P. Baker, Carl Hill, Christopher M. Dunn, Christopher |
| Description | Author 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.) |
| 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. |
| ISSN | 00368075 |
| Issue Number | 6281 |
| Volume Number | 352 |
| e-ISSN | 10959203 |
| Journal | Science |
| Language | English |
| Publisher | American Association for the Advancement of Science (United States) |
| Publisher Date | 2016-04-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Gorilla Gorilla Genetics Sequence Analysis, DNA Methods Animals Contig Mapping Evolution, Molecular Expressed Sequence Tags Female Genetic Variation Genome, Human Genomics Humans Sequence Alignment Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | History and Philosophy of Science |
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