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Complete sequencing of ape genomes.
Yoo, DongAhn; Rhie, Arang; Hebbar, Prajna; Antonacci, Francesca; Logsdon, Glennis A; Solar, Steven J; Antipov, Dmitry; Pickett, Brandon D; Safonova, Yana; Montinaro, Francesco; Luo, Yanting; Malukiewicz, Joanna; Storer, Jessica M; Lin, Jiadong; Sequeira, Abigail N; Mangan, Riley J; Hickey, Glenn; Anez, Graciela Monfort; Balachandran, Parithi; Bankevich, Anton; Beck, Christine R; Biddanda, Arjun; Borchers, Matthew; Bouffard, Gerard G; Brannan, Emry; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Chan, Agnes P; Crawford, Juyun; Diekhans, Mark; Engelbrecht, Eric; Feschotte, Cedric; Formenti, Giulio; Garcia, Gage H; de Gennaro, Luciana; Gilbert, David; Green, Richard E; Guarracino, Andrea; Gupta, Ishaan; Haddad, Diana; Han, Junmin; Harris, Robert S; Hartley, Gabrielle A; Harvey, William T; Hiller, Michael; Hoekzema, Kendra; Houck, Marlys L; Jeong, Hyeonsoo; Kamali, Kaivan.
Afiliação
  • Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Rhie A; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Hebbar P; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95060, USA.
  • Antonacci F; Department of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.
  • Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Solar SJ; Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.
  • Antipov D; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Pickett BD; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Safonova Y; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Montinaro F; Computer Science and Engineering Department, Huck Institutes of Life Sciences, Pennsylvania State University, State College, PA 16801, USA.
  • Luo Y; Department of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.
  • Malukiewicz J; Institute of Genomics, University of Tartu, Tartu, Estonia.
  • Storer JM; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
  • Lin J; Research Unit for Evolutionary Immunogenomics, Department of Biology, University of Hamburg, 20146 Hamburg, Germany.
  • Sequeira AN; Institute for Systems Genomics, University of Connecticut, Storrs, CT 06269, USA.
  • Mangan RJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Hickey G; Department of Biology, Penn State University, University Park, PA 16802, USA.
  • Anez GM; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
  • Balachandran P; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bankevich A; Genetics Training Program, Harvard Medical School, Boston, MA 02115, USA.
  • Beck CR; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95060, USA.
  • Biddanda A; Stowers Institute for Medical Research, Kansas City, MO 64110, USA.
  • Borchers M; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
  • Bouffard GG; Computer Science and Engineering Department, Huck Institutes of Life Sciences, Pennsylvania State University, State College, PA 16801, USA.
  • Brannan E; Institute for Systems Genomics, University of Connecticut, Storrs, CT 06269, USA.
  • Brooks SY; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
  • Carbone L; Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT, USA.
  • Carrel L; Department of Biology, Johns Hopkins University, Baltimore, MD 21218, USA.
  • Chan AP; Stowers Institute for Medical Research, Kansas City, MO 64110, USA.
  • Crawford J; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Diekhans M; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Engelbrecht E; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Feschotte C; Department of Medicine, KCVI, Oregon Health Sciences University, Portland, OR, USA.
  • Formenti G; Division of Genetics, Oregon National Primate Research Center, Beaverton, OR, USA.
  • Garcia GH; PSU Medical School, Penn State University School of Medicine, Hershey, PA, USA.
  • de Gennaro L; The Translational Genomics Research Institute, a part of the City of Hope National Medical Center, Phoenix, AZ, USA.
  • Gilbert D; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Green RE; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95060, USA.
  • Guarracino A; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Louisville, Louisville, KY, USA.
  • Gupta I; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.
  • Haddad D; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY 10021, USA.
  • Han J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Harris RS; Department of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.
  • Hartley GA; San Diego Biomedical Research Institute, San Diego, CA, USA.
  • Harvey WT; University of California Santa Cruz, Santa Cruz, CA, USA.
  • Hiller M; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
  • Hoekzema K; Department of Computer Science and Engineering, University of California San Diego, CA, USA.
  • Houck ML; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.
  • Jeong H; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
  • Kamali K; Department of Biology, Penn State University, University Park, PA 16802, USA.
bioRxiv ; 2024 Oct 05.
Article em En | MEDLINE | ID: mdl-39131277
ABSTRACT
We present haplotype-resolved reference genomes and comparative analyses of six ape species, namely chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang. We achieve chromosome-level contiguity with unparalleled sequence accuracy (<1 error in 500,000 base pairs), completely sequencing 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, providing more in-depth evolutionary insights. Comparative analyses, including human, allow us to investigate the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference. This includes newly minted gene families within lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes, and subterminal heterochromatin. This resource should serve as a definitive baseline for all future evolutionary studies of humans and our closest living ape relatives.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos