The evolution and population diversity of human-specific segmental duplications View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-02-17

AUTHORS

Megan Y. Dennis, Lana Harshman, Bradley J. Nelson, Osnat Penn, Stuart Cantsilieris, John Huddleston, Francesca Antonacci, Kelsi Penewit, Laura Denman, Archana Raja, Carl Baker, Kenneth Mark, Maika Malig, Nicolette Janke, Claudia Espinoza, Holly A.F. Stessman, Xander Nuttle, Kendra Hoekzema, Tina A. Lindsay-Graves, Richard K. Wilson, Evan E. Eichler

ABSTRACT

Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed "core duplicons", and evolved primarily in an interspersed inverted orientation. In addition to Homo sapiens-specific gene expansions (e.g., TCAF1/2), we highlight ten gene families (e.g., ARHGAP11B and SRGAP2C) where copy number never returns to the ancestral state, there is evidence of mRNA splicing, and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits. More... »

PAGES

0069

References to SciGraph publications

  • 2002-07. Geology and palaeontology of the Upper Miocene Toros-Menalla hominid locality, Chad in NATURE
  • 2009-02-20. Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population in JOURNAL OF HUMAN GENETICS
  • 2005-09. A genome-wide comparison of recent chimpanzee and human segmental duplications in NATURE
  • 2012-11-16. Evolution of genetic and genomic features unique to the human lineage in NATURE REVIEWS GENETICS
  • 2016-08-03. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility in NATURE
  • 2014-11-10. Resolving the complexity of the human genome using single-molecule sequencing in NATURE
  • 2013-07-28. Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion in NATURE METHODS
  • 2000-11. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects in NATURE GENETICS
  • 2002-07. A new hominid from the Upper Miocene of Chad, Central Africa in NATURE
  • 2014-05-20. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses in MOLECULAR AUTISM
  • 2004-05. An assessment of the sequence gaps: Unfinished business in a finished human genome in NATURE REVIEWS GENETICS
  • 2014-10-19. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability in NATURE GENETICS
  • 1977-08. Androgenetic origin of hydatidiform mole in NATURE
  • 2014-09-17. Ancient human genomes suggest three ancestral populations for present-day Europeans in NATURE
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2015-09-30. An integrated map of structural variation in 2,504 human genomes in NATURE
  • 2006-06-13. Primate segmental duplications: crucibles of evolution, diversity and disease in NATURE REVIEWS GENETICS
  • 2016-01-25. Epigenomic annotation of gene regulatory alterations during evolution of the primate brain in NATURE NEUROSCIENCE
  • 2013-07-03. Great ape genetic diversity and population history in NATURE
  • 2013-12-18. The complete genome sequence of a Neandertal from the Altai Mountains in NATURE
  • 2009-02-01. A burst of segmental duplications in the genome of the African great ape ancestor in NATURE
  • 2007-05-30. The menthol receptor TRPM8 is the principal detector of environmental cold in NATURE
  • 1970. Evolution by Gene Duplication in NONE
  • 2010-08-22. A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk in NATURE GENETICS
  • 2007-10-07. Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution in NATURE GENETICS
  • 2015-06-16. Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications in BMC GENOMICS
  • 2014-10-22. Genome sequence of a 45,000-year-old modern human from western Siberia in NATURE
  • 2011-03-09. Human-specific loss of regulatory DNA and the evolution of human-specific traits in NATURE
  • 2005-04. New material of the earliest hominid from the Upper Miocene of Chad in NATURE
  • 2014-04-20. Sailfish enables alignment-free isoform quantification from RNA-seq reads using lightweight algorithms in NATURE BIOTECHNOLOGY
  • 2010-08. mrsFAST: a cache-oblivious algorithm for short-read mapping in NATURE METHODS
  • 2012-07-01. Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism in NATURE GENETICS
  • 2011-10-02. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41559-016-0069

    DOI

    http://dx.doi.org/10.1038/s41559-016-0069

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1083915364

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28580430


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Genome Center, MIND Institute, and Department of Biochemistry & Molecular Medicine, University of California, Davis, CA 95616, USA", 
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dennis", 
            "givenName": "Megan Y.", 
            "id": "sg:person.01340311641.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340311641.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Harshman", 
            "givenName": "Lana", 
            "id": "sg:person.013060375055.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013060375055.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nelson", 
            "givenName": "Bradley J.", 
            "id": "sg:person.0672320651.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672320651.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Penn", 
            "givenName": "Osnat", 
            "id": "sg:person.01150326525.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150326525.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cantsilieris", 
            "givenName": "Stuart", 
            "id": "sg:person.01341501312.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341501312.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "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"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Huddleston", 
            "givenName": "John", 
            "id": "sg:person.0650352515.70", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650352515.70"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Dipartimento di Biologia, Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d, Bari 70125, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7644.1", 
              "name": [
                "Dipartimento di Biologia, Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d, Bari 70125, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Antonacci", 
            "givenName": "Francesca", 
            "id": "sg:person.01113740435.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01113740435.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Penewit", 
            "givenName": "Kelsi", 
            "id": "sg:person.010477161745.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010477161745.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Denman", 
            "givenName": "Laura", 
            "id": "sg:person.0656734056.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656734056.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "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"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Raja", 
            "givenName": "Archana", 
            "id": "sg:person.0725047256.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725047256.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baker", 
            "givenName": "Carl", 
            "id": "sg:person.01266240154.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266240154.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mark", 
            "givenName": "Kenneth", 
            "id": "sg:person.0663020741.57", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663020741.57"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Malig", 
            "givenName": "Maika", 
            "id": "sg:person.0621011335.80", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621011335.80"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Janke", 
            "givenName": "Nicolette", 
            "id": "sg:person.0746221674.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746221674.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Espinoza", 
            "givenName": "Claudia", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stessman", 
            "givenName": "Holly A.F.", 
            "id": "sg:person.01051035153.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051035153.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nuttle", 
            "givenName": "Xander", 
            "id": "sg:person.01203231415.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203231415.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hoekzema", 
            "givenName": "Kendra", 
            "id": "sg:person.01233711470.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233711470.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "McDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA", 
              "id": "http://www.grid.ac/institutes/grid.4367.6", 
              "name": [
                "McDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lindsay-Graves", 
            "givenName": "Tina A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "McDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA", 
              "id": "http://www.grid.ac/institutes/grid.4367.6", 
              "name": [
                "McDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wilson", 
            "givenName": "Richard K.", 
            "id": "sg:person.013076541047.38", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013076541047.38"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "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"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eichler", 
            "givenName": "Evan E.", 
            "id": "sg:person.0705101106.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng.643", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001900142", 
              "https://doi.org/10.1038/ng.643"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/81695", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018491740", 
              "https://doi.org/10.1038/81695"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/2040-2392-5-34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047868650", 
              "https://doi.org/10.1186/2040-2392-5-34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13673", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047142949", 
              "https://doi.org/10.1038/nature13673"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg3336", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035841745", 
              "https://doi.org/10.1038/nrg3336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.2572", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011927149", 
              "https://doi.org/10.1038/nmeth.2572"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07744", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003544206", 
              "https://doi.org/10.1038/nature07744"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.2862", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011219673", 
              "https://doi.org/10.1038/nbt.2862"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature03392", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027136571", 
              "https://doi.org/10.1038/nature03392"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature19075", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021654892", 
              "https://doi.org/10.1038/nature19075"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2009.10", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037195477", 
              "https://doi.org/10.1038/jhg.2009.10"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15394", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031274231", 
              "https://doi.org/10.1038/nature15394"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12228", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036930896", 
              "https://doi.org/10.1038/nature12228"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13907", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014139802", 
              "https://doi.org/10.1038/nature13907"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12886", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016472358", 
              "https://doi.org/10.1038/nature12886"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3120", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043919448", 
              "https://doi.org/10.1038/ng.3120"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/268633a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039129377", 
              "https://doi.org/10.1038/268633a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-015-1681-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005435916", 
              "https://doi.org/10.1186/s12864-015-1681-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05910", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035284521", 
              "https://doi.org/10.1038/nature05910"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-3-642-86659-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006433795", 
              "https://doi.org/10.1007/978-3-642-86659-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature04000", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048617134", 
              "https://doi.org/10.1038/nature04000"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2007.9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008279336", 
              "https://doi.org/10.1038/ng.2007.9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nn.4229", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050983949", 
              "https://doi.org/10.1038/nn.4229"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature00879", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024743122", 
              "https://doi.org/10.1038/nature00879"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth0810-576", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052651674", 
              "https://doi.org/10.1038/nmeth0810-576"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1322", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041919822", 
              "https://doi.org/10.1038/nrg1322"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature00880", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008954609", 
              "https://doi.org/10.1038/nature00880"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05329", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925490", 
              "https://doi.org/10.1038/nature05329"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13810", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020730897", 
              "https://doi.org/10.1038/nature13810"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09774", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039964859", 
              "https://doi.org/10.1038/nature09774"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2335", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028340166", 
              "https://doi.org/10.1038/ng.2335"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1895", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017304465", 
              "https://doi.org/10.1038/nrg1895"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.944", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029975937", 
              "https://doi.org/10.1038/ng.944"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2017-02-17", 
        "datePublishedReg": "2017-02-17", 
        "description": "Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed \"core duplicons\", and evolved primarily in an interspersed inverted orientation. In addition to Homo sapiens-specific gene expansions (e.g., TCAF1/2), we highlight ten gene families (e.g., ARHGAP11B and SRGAP2C) where copy number never returns to the ancestral state, there is evidence of mRNA splicing, and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/s41559-016-0069", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2684329", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552909", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2699307", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.7877357", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.4729034", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3801270", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2529112", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2623539", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1284474", 
            "issn": [
              "2397-334X"
            ], 
            "name": "Nature Ecology & Evolution", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "3", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "1"
          }
        ], 
        "keywords": [
          "human-specific segmental duplications", 
          "segmental duplications", 
          "specific gene expansions", 
          "protein-coding potential", 
          "ancestral state", 
          "genomic clones", 
          "core duplicons", 
          "gene expansion", 
          "adaptive traits", 
          "gene family", 
          "mRNA splicing", 
          "genetic variation", 
          "genomic instability", 
          "copy number", 
          "human evolution", 
          "duplication", 
          "population diversity", 
          "splicing", 
          "evolution", 
          "complex region", 
          "duplicons", 
          "traits", 
          "diversity", 
          "clones", 
          "mutations", 
          "family", 
          "hominids", 
          "adaptation", 
          "duplicates", 
          "population", 
          "such duplicates", 
          "homo", 
          "potential", 
          "region", 
          "variation", 
          "evidence", 
          "addition", 
          "expansion", 
          "candidates", 
          "analysis", 
          "number", 
          "instability", 
          "state", 
          "orientation", 
          "general population", 
          "contemporary hominid", 
          "nonhuman primate genomic clones", 
          "primate genomic clones", 
          "most complex regions", 
          "ancestral ape duplications", 
          "ape duplications", 
          "common gene-disruptive mutations", 
          "gene-disruptive mutations", 
          "human-specific adaptive traits"
        ], 
        "name": "The evolution and population diversity of human-specific segmental duplications", 
        "pagination": "0069", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1083915364"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41559-016-0069"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "28580430"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41559-016-0069", 
          "https://app.dimensions.ai/details/publication/pub.1083915364"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:45", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_750.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/s41559-016-0069"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41559-016-0069'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41559-016-0069'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41559-016-0069'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41559-016-0069'


     

    This table displays all metadata directly associated to this object as RDF triples.

    410 TRIPLES      22 PREDICATES      113 URIs      72 LITERALS      7 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41559-016-0069 schema:about anzsrc-for:06
    2 anzsrc-for:0604
    3 schema:author N1fbe4f1d4e284f669c9744274edd10af
    4 schema:citation sg:pub.10.1007/978-3-642-86659-3
    5 sg:pub.10.1038/268633a0
    6 sg:pub.10.1038/81695
    7 sg:pub.10.1038/jhg.2009.10
    8 sg:pub.10.1038/nature00879
    9 sg:pub.10.1038/nature00880
    10 sg:pub.10.1038/nature03392
    11 sg:pub.10.1038/nature04000
    12 sg:pub.10.1038/nature05329
    13 sg:pub.10.1038/nature05910
    14 sg:pub.10.1038/nature07744
    15 sg:pub.10.1038/nature09774
    16 sg:pub.10.1038/nature12228
    17 sg:pub.10.1038/nature12886
    18 sg:pub.10.1038/nature13673
    19 sg:pub.10.1038/nature13810
    20 sg:pub.10.1038/nature13907
    21 sg:pub.10.1038/nature15394
    22 sg:pub.10.1038/nature19075
    23 sg:pub.10.1038/nbt.2862
    24 sg:pub.10.1038/ng.2007.9
    25 sg:pub.10.1038/ng.2335
    26 sg:pub.10.1038/ng.3120
    27 sg:pub.10.1038/ng.643
    28 sg:pub.10.1038/ng.944
    29 sg:pub.10.1038/nmeth.2572
    30 sg:pub.10.1038/nmeth0810-576
    31 sg:pub.10.1038/nn.4229
    32 sg:pub.10.1038/nrg1322
    33 sg:pub.10.1038/nrg1895
    34 sg:pub.10.1038/nrg3336
    35 sg:pub.10.1186/2040-2392-5-34
    36 sg:pub.10.1186/s12864-015-1681-3
    37 schema:datePublished 2017-02-17
    38 schema:datePublishedReg 2017-02-17
    39 schema:description Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed "core duplicons", and evolved primarily in an interspersed inverted orientation. In addition to <i>Homo sapiens</i>-specific gene expansions (e.g., <i>TCAF1/2</i>), we highlight ten gene families (e.g., <i>ARHGAP11B</i> and <i>SRGAP2C</i>) where copy number never returns to the ancestral state, there is evidence of mRNA splicing, and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits.
    40 schema:genre article
    41 schema:inLanguage en
    42 schema:isAccessibleForFree true
    43 schema:isPartOf Nc29a62bf127c4325abfc4d253ec3d912
    44 Nc7727915f547449b8404e79e8ea3c6f6
    45 sg:journal.1284474
    46 schema:keywords adaptation
    47 adaptive traits
    48 addition
    49 analysis
    50 ancestral ape duplications
    51 ancestral state
    52 ape duplications
    53 candidates
    54 clones
    55 common gene-disruptive mutations
    56 complex region
    57 contemporary hominid
    58 copy number
    59 core duplicons
    60 diversity
    61 duplicates
    62 duplication
    63 duplicons
    64 evidence
    65 evolution
    66 expansion
    67 family
    68 gene expansion
    69 gene family
    70 gene-disruptive mutations
    71 general population
    72 genetic variation
    73 genomic clones
    74 genomic instability
    75 hominids
    76 homo
    77 human evolution
    78 human-specific adaptive traits
    79 human-specific segmental duplications
    80 instability
    81 mRNA splicing
    82 most complex regions
    83 mutations
    84 nonhuman primate genomic clones
    85 number
    86 orientation
    87 population
    88 population diversity
    89 potential
    90 primate genomic clones
    91 protein-coding potential
    92 region
    93 segmental duplications
    94 specific gene expansions
    95 splicing
    96 state
    97 such duplicates
    98 traits
    99 variation
    100 schema:name The evolution and population diversity of human-specific segmental duplications
    101 schema:pagination 0069
    102 schema:productId N21b8130c82a347e2beccdc7cdb47f95b
    103 N9b2d4a8ec7794766bc0c59a9e95ee41e
    104 Naa8e76c0894043db8b6b8504b90341a4
    105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083915364
    106 https://doi.org/10.1038/s41559-016-0069
    107 schema:sdDatePublished 2022-01-01T18:45
    108 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    109 schema:sdPublisher N9b6330e788fc465b9ba7f02b1c0f59e7
    110 schema:url https://doi.org/10.1038/s41559-016-0069
    111 sgo:license sg:explorer/license/
    112 sgo:sdDataset articles
    113 rdf:type schema:ScholarlyArticle
    114 N1437fc381e53448cbdba7c76df22b734 rdf:first sg:person.01051035153.89
    115 rdf:rest N4aff03b773964a459def427abf52fd58
    116 N16330c7044e943a4812f5bcf21b77048 rdf:first sg:person.01266240154.24
    117 rdf:rest N90b0fe270a4945b1ac97816652b4e472
    118 N1fbe4f1d4e284f669c9744274edd10af rdf:first sg:person.01340311641.16
    119 rdf:rest N5d28844b779d417f905cd00de1ed193b
    120 N21b8130c82a347e2beccdc7cdb47f95b schema:name dimensions_id
    121 schema:value pub.1083915364
    122 rdf:type schema:PropertyValue
    123 N24548fc8dc1d402fa2338ffb3ef943b8 rdf:first sg:person.01150326525.07
    124 rdf:rest N76c9b4f53d6345c887974bcc3b18dca7
    125 N27af7a11890e470ca8da7d678bd6e65c schema:affiliation grid-institutes:grid.4367.6
    126 schema:familyName Lindsay-Graves
    127 schema:givenName Tina A.
    128 rdf:type schema:Person
    129 N4a362e54d8614aa29bb48cfae1e05202 rdf:first sg:person.0705101106.89
    130 rdf:rest rdf:nil
    131 N4aff03b773964a459def427abf52fd58 rdf:first sg:person.01203231415.56
    132 rdf:rest N92a79f9e096b43c1bf369c92b752eb53
    133 N5d28844b779d417f905cd00de1ed193b rdf:first sg:person.013060375055.18
    134 rdf:rest Nddabda2b75cf445bac84e525479ed63e
    135 N5fb3c817ce2849fbb718f88f9261a98d rdf:first sg:person.013076541047.38
    136 rdf:rest N4a362e54d8614aa29bb48cfae1e05202
    137 N6b2a77bf90c0440697c9678a605b8b99 rdf:first sg:person.0650352515.70
    138 rdf:rest N9b7be026c2154f7ea3e4e2d0804dbd19
    139 N6b390f5a0de94f83824cf76a3b08b504 rdf:first sg:person.0621011335.80
    140 rdf:rest Nc0adddcd4b7f4c67a0097cc9a653accb
    141 N7587ac83854144cca8ed1646a5fa683d rdf:first sg:person.010477161745.26
    142 rdf:rest Nd9a918470f0e413daa5ac4e7f104d123
    143 N76c9b4f53d6345c887974bcc3b18dca7 rdf:first sg:person.01341501312.25
    144 rdf:rest N6b2a77bf90c0440697c9678a605b8b99
    145 N791c6be209a64339a1abdeb9928ad1f0 schema:affiliation grid-institutes:grid.34477.33
    146 schema:familyName Espinoza
    147 schema:givenName Claudia
    148 rdf:type schema:Person
    149 N90b0fe270a4945b1ac97816652b4e472 rdf:first sg:person.0663020741.57
    150 rdf:rest N6b390f5a0de94f83824cf76a3b08b504
    151 N92a79f9e096b43c1bf369c92b752eb53 rdf:first sg:person.01233711470.12
    152 rdf:rest N9e83e6bf5a4a4cc7b436b1d55a354c5c
    153 N9b2d4a8ec7794766bc0c59a9e95ee41e schema:name pubmed_id
    154 schema:value 28580430
    155 rdf:type schema:PropertyValue
    156 N9b6330e788fc465b9ba7f02b1c0f59e7 schema:name Springer Nature - SN SciGraph project
    157 rdf:type schema:Organization
    158 N9b7be026c2154f7ea3e4e2d0804dbd19 rdf:first sg:person.01113740435.15
    159 rdf:rest N7587ac83854144cca8ed1646a5fa683d
    160 N9e83e6bf5a4a4cc7b436b1d55a354c5c rdf:first N27af7a11890e470ca8da7d678bd6e65c
    161 rdf:rest N5fb3c817ce2849fbb718f88f9261a98d
    162 Na40c40a9777640d8b8b9e0765ae3d3cb rdf:first sg:person.0725047256.34
    163 rdf:rest N16330c7044e943a4812f5bcf21b77048
    164 Naa8e76c0894043db8b6b8504b90341a4 schema:name doi
    165 schema:value 10.1038/s41559-016-0069
    166 rdf:type schema:PropertyValue
    167 Nc0adddcd4b7f4c67a0097cc9a653accb rdf:first sg:person.0746221674.58
    168 rdf:rest Nd2ee63d7417a4364959860ed9d344de8
    169 Nc29a62bf127c4325abfc4d253ec3d912 schema:issueNumber 3
    170 rdf:type schema:PublicationIssue
    171 Nc7727915f547449b8404e79e8ea3c6f6 schema:volumeNumber 1
    172 rdf:type schema:PublicationVolume
    173 Nd2ee63d7417a4364959860ed9d344de8 rdf:first N791c6be209a64339a1abdeb9928ad1f0
    174 rdf:rest N1437fc381e53448cbdba7c76df22b734
    175 Nd9a918470f0e413daa5ac4e7f104d123 rdf:first sg:person.0656734056.56
    176 rdf:rest Na40c40a9777640d8b8b9e0765ae3d3cb
    177 Nddabda2b75cf445bac84e525479ed63e rdf:first sg:person.0672320651.25
    178 rdf:rest N24548fc8dc1d402fa2338ffb3ef943b8
    179 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    180 schema:name Biological Sciences
    181 rdf:type schema:DefinedTerm
    182 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    183 schema:name Genetics
    184 rdf:type schema:DefinedTerm
    185 sg:grant.2529112 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    186 rdf:type schema:MonetaryGrant
    187 sg:grant.2552909 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    188 rdf:type schema:MonetaryGrant
    189 sg:grant.2623539 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    190 rdf:type schema:MonetaryGrant
    191 sg:grant.2684329 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    192 rdf:type schema:MonetaryGrant
    193 sg:grant.2699307 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    194 rdf:type schema:MonetaryGrant
    195 sg:grant.3801270 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    196 rdf:type schema:MonetaryGrant
    197 sg:grant.4729034 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    198 rdf:type schema:MonetaryGrant
    199 sg:grant.7877357 http://pending.schema.org/fundedItem sg:pub.10.1038/s41559-016-0069
    200 rdf:type schema:MonetaryGrant
    201 sg:journal.1284474 schema:issn 2397-334X
    202 schema:name Nature Ecology & Evolution
    203 schema:publisher Springer Nature
    204 rdf:type schema:Periodical
    205 sg:person.010477161745.26 schema:affiliation grid-institutes:grid.34477.33
    206 schema:familyName Penewit
    207 schema:givenName Kelsi
    208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010477161745.26
    209 rdf:type schema:Person
    210 sg:person.01051035153.89 schema:affiliation grid-institutes:grid.34477.33
    211 schema:familyName Stessman
    212 schema:givenName Holly A.F.
    213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051035153.89
    214 rdf:type schema:Person
    215 sg:person.01113740435.15 schema:affiliation grid-institutes:grid.7644.1
    216 schema:familyName Antonacci
    217 schema:givenName Francesca
    218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01113740435.15
    219 rdf:type schema:Person
    220 sg:person.01150326525.07 schema:affiliation grid-institutes:grid.34477.33
    221 schema:familyName Penn
    222 schema:givenName Osnat
    223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150326525.07
    224 rdf:type schema:Person
    225 sg:person.01203231415.56 schema:affiliation grid-institutes:grid.34477.33
    226 schema:familyName Nuttle
    227 schema:givenName Xander
    228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203231415.56
    229 rdf:type schema:Person
    230 sg:person.01233711470.12 schema:affiliation grid-institutes:grid.34477.33
    231 schema:familyName Hoekzema
    232 schema:givenName Kendra
    233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233711470.12
    234 rdf:type schema:Person
    235 sg:person.01266240154.24 schema:affiliation grid-institutes:grid.34477.33
    236 schema:familyName Baker
    237 schema:givenName Carl
    238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266240154.24
    239 rdf:type schema:Person
    240 sg:person.013060375055.18 schema:affiliation grid-institutes:grid.34477.33
    241 schema:familyName Harshman
    242 schema:givenName Lana
    243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013060375055.18
    244 rdf:type schema:Person
    245 sg:person.013076541047.38 schema:affiliation grid-institutes:grid.4367.6
    246 schema:familyName Wilson
    247 schema:givenName Richard K.
    248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013076541047.38
    249 rdf:type schema:Person
    250 sg:person.01340311641.16 schema:affiliation grid-institutes:grid.34477.33
    251 schema:familyName Dennis
    252 schema:givenName Megan Y.
    253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340311641.16
    254 rdf:type schema:Person
    255 sg:person.01341501312.25 schema:affiliation grid-institutes:grid.34477.33
    256 schema:familyName Cantsilieris
    257 schema:givenName Stuart
    258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341501312.25
    259 rdf:type schema:Person
    260 sg:person.0621011335.80 schema:affiliation grid-institutes:grid.34477.33
    261 schema:familyName Malig
    262 schema:givenName Maika
    263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621011335.80
    264 rdf:type schema:Person
    265 sg:person.0650352515.70 schema:affiliation grid-institutes:grid.34477.33
    266 schema:familyName Huddleston
    267 schema:givenName John
    268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650352515.70
    269 rdf:type schema:Person
    270 sg:person.0656734056.56 schema:affiliation grid-institutes:grid.34477.33
    271 schema:familyName Denman
    272 schema:givenName Laura
    273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656734056.56
    274 rdf:type schema:Person
    275 sg:person.0663020741.57 schema:affiliation grid-institutes:grid.34477.33
    276 schema:familyName Mark
    277 schema:givenName Kenneth
    278 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663020741.57
    279 rdf:type schema:Person
    280 sg:person.0672320651.25 schema:affiliation grid-institutes:grid.34477.33
    281 schema:familyName Nelson
    282 schema:givenName Bradley J.
    283 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672320651.25
    284 rdf:type schema:Person
    285 sg:person.0705101106.89 schema:affiliation grid-institutes:grid.34477.33
    286 schema:familyName Eichler
    287 schema:givenName Evan E.
    288 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89
    289 rdf:type schema:Person
    290 sg:person.0725047256.34 schema:affiliation grid-institutes:grid.34477.33
    291 schema:familyName Raja
    292 schema:givenName Archana
    293 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725047256.34
    294 rdf:type schema:Person
    295 sg:person.0746221674.58 schema:affiliation grid-institutes:grid.34477.33
    296 schema:familyName Janke
    297 schema:givenName Nicolette
    298 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746221674.58
    299 rdf:type schema:Person
    300 sg:pub.10.1007/978-3-642-86659-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006433795
    301 https://doi.org/10.1007/978-3-642-86659-3
    302 rdf:type schema:CreativeWork
    303 sg:pub.10.1038/268633a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039129377
    304 https://doi.org/10.1038/268633a0
    305 rdf:type schema:CreativeWork
    306 sg:pub.10.1038/81695 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018491740
    307 https://doi.org/10.1038/81695
    308 rdf:type schema:CreativeWork
    309 sg:pub.10.1038/jhg.2009.10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037195477
    310 https://doi.org/10.1038/jhg.2009.10
    311 rdf:type schema:CreativeWork
    312 sg:pub.10.1038/nature00879 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024743122
    313 https://doi.org/10.1038/nature00879
    314 rdf:type schema:CreativeWork
    315 sg:pub.10.1038/nature00880 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008954609
    316 https://doi.org/10.1038/nature00880
    317 rdf:type schema:CreativeWork
    318 sg:pub.10.1038/nature03392 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027136571
    319 https://doi.org/10.1038/nature03392
    320 rdf:type schema:CreativeWork
    321 sg:pub.10.1038/nature04000 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048617134
    322 https://doi.org/10.1038/nature04000
    323 rdf:type schema:CreativeWork
    324 sg:pub.10.1038/nature05329 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052925490
    325 https://doi.org/10.1038/nature05329
    326 rdf:type schema:CreativeWork
    327 sg:pub.10.1038/nature05910 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035284521
    328 https://doi.org/10.1038/nature05910
    329 rdf:type schema:CreativeWork
    330 sg:pub.10.1038/nature07744 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003544206
    331 https://doi.org/10.1038/nature07744
    332 rdf:type schema:CreativeWork
    333 sg:pub.10.1038/nature09774 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039964859
    334 https://doi.org/10.1038/nature09774
    335 rdf:type schema:CreativeWork
    336 sg:pub.10.1038/nature12228 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036930896
    337 https://doi.org/10.1038/nature12228
    338 rdf:type schema:CreativeWork
    339 sg:pub.10.1038/nature12886 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016472358
    340 https://doi.org/10.1038/nature12886
    341 rdf:type schema:CreativeWork
    342 sg:pub.10.1038/nature13673 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047142949
    343 https://doi.org/10.1038/nature13673
    344 rdf:type schema:CreativeWork
    345 sg:pub.10.1038/nature13810 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020730897
    346 https://doi.org/10.1038/nature13810
    347 rdf:type schema:CreativeWork
    348 sg:pub.10.1038/nature13907 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014139802
    349 https://doi.org/10.1038/nature13907
    350 rdf:type schema:CreativeWork
    351 sg:pub.10.1038/nature15394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031274231
    352 https://doi.org/10.1038/nature15394
    353 rdf:type schema:CreativeWork
    354 sg:pub.10.1038/nature19075 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021654892
    355 https://doi.org/10.1038/nature19075
    356 rdf:type schema:CreativeWork
    357 sg:pub.10.1038/nbt.2862 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011219673
    358 https://doi.org/10.1038/nbt.2862
    359 rdf:type schema:CreativeWork
    360 sg:pub.10.1038/ng.2007.9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008279336
    361 https://doi.org/10.1038/ng.2007.9
    362 rdf:type schema:CreativeWork
    363 sg:pub.10.1038/ng.2335 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028340166
    364 https://doi.org/10.1038/ng.2335
    365 rdf:type schema:CreativeWork
    366 sg:pub.10.1038/ng.3120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043919448
    367 https://doi.org/10.1038/ng.3120
    368 rdf:type schema:CreativeWork
    369 sg:pub.10.1038/ng.643 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001900142
    370 https://doi.org/10.1038/ng.643
    371 rdf:type schema:CreativeWork
    372 sg:pub.10.1038/ng.944 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029975937
    373 https://doi.org/10.1038/ng.944
    374 rdf:type schema:CreativeWork
    375 sg:pub.10.1038/nmeth.2572 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011927149
    376 https://doi.org/10.1038/nmeth.2572
    377 rdf:type schema:CreativeWork
    378 sg:pub.10.1038/nmeth0810-576 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052651674
    379 https://doi.org/10.1038/nmeth0810-576
    380 rdf:type schema:CreativeWork
    381 sg:pub.10.1038/nn.4229 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050983949
    382 https://doi.org/10.1038/nn.4229
    383 rdf:type schema:CreativeWork
    384 sg:pub.10.1038/nrg1322 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041919822
    385 https://doi.org/10.1038/nrg1322
    386 rdf:type schema:CreativeWork
    387 sg:pub.10.1038/nrg1895 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017304465
    388 https://doi.org/10.1038/nrg1895
    389 rdf:type schema:CreativeWork
    390 sg:pub.10.1038/nrg3336 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035841745
    391 https://doi.org/10.1038/nrg3336
    392 rdf:type schema:CreativeWork
    393 sg:pub.10.1186/2040-2392-5-34 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047868650
    394 https://doi.org/10.1186/2040-2392-5-34
    395 rdf:type schema:CreativeWork
    396 sg:pub.10.1186/s12864-015-1681-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005435916
    397 https://doi.org/10.1186/s12864-015-1681-3
    398 rdf:type schema:CreativeWork
    399 grid-institutes:grid.34477.33 schema:alternateName Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    400 Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
    401 schema:name Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    402 Genome Center, MIND Institute, and Department of Biochemistry & Molecular Medicine, University of California, Davis, CA 95616, USA
    403 Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
    404 rdf:type schema:Organization
    405 grid-institutes:grid.4367.6 schema:alternateName McDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA
    406 schema:name McDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA
    407 rdf:type schema:Organization
    408 grid-institutes:grid.7644.1 schema:alternateName Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari 70125, Italy
    409 schema:name Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari 70125, Italy
    410 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...