Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Elena A. Vidal, Tomás C. Moyano, Bernabé I. Bustos, Eduardo Pérez-Palma, Carol Moraga, Eleodoro Riveras, Alejandro Montecinos, Lorena Azócar, Daniela C. Soto, Mabel Vidal, Alex Di Genova, Klaus Puschel, Peter Nürnberg, Stephan Buch, Jochen Hampe, Miguel L. Allende, Verónica Cambiazo, Mauricio González, Christian Hodar, Martín Montecino, Claudia Muñoz-Espinoza, Ariel Orellana, Angélica Reyes-Jara, Dante Travisany, Paula Vizoso, Mauricio Moraga, Susana Eyheramendy, Alejandro Maass, Giancarlo V. De Ferrari, Juan Francisco Miquel, Rodrigo A. Gutiérrez

ABSTRACT

Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 106 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. Additionally, we found that HUI genomes contain variants in genes associated with 5 of the 6 leading causes of noncommunicable diseases in Chile, which may have an impact on the risk of prevalent diseases in Chilean and Amerindian populations. Our data represents a useful resource that can contribute to population-based studies and for the design of early diagnostics or prevention tools for Native and admixed Latin American populations. More... »

PAGES

2132

References to SciGraph publications

  • 2015-12. Genetic structure characterization of Chileans reflects historical immigration patterns in NATURE COMMUNICATIONS
  • 2008-08. Isolated populations and complex disease gene identification in GENOME BIOLOGY
  • 2010-09. Integrating common and rare genetic variation in diverse human populations in NATURE
  • 2010-02-11. Ancient human genome sequence of an extinct Palaeo-Eskimo in NATURE
  • 2017-12. Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing in NATURE COMMUNICATIONS
  • 2019-12. Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry in SCIENTIFIC REPORTS
  • 2010-01. Variant in PNPLA3 is associated with alcoholic liver disease in NATURE GENETICS
  • 2014-12. Using genetically isolated populations to understand the genomic basis of disease in GENOME MEDICINE
  • 2015-03. A copy number variation map of the human genome in NATURE REVIEWS GENETICS
  • 2014-08. Whole-genome sequence variation, population structure and demographic history of the Dutch population in NATURE GENETICS
  • 2014-03. A general framework for estimating the relative pathogenicity of human genetic variants in NATURE GENETICS
  • 2015-10. An integrated map of structural variation in 2,504 human genomes in NATURE
  • 2015-10. A global reference for human genetic variation in NATURE
  • 2018-10. Whole-exome sequencing in maya indigenous families: variant in PPP1R3A is associated with type 2 diabetes in MOLECULAR GENETICS AND GENOMICS
  • 2016-08. Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2012-08. Reconstructing Native American population history in NATURE
  • 2018-02. Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-04. Causes of hyperhomocysteinemia and its pathological significance in ARCHIVES OF PHARMACAL RESEARCH
  • 2012-02. Consistency between cross-sectional and longitudinal SNP: blood lipid associations in EUROPEAN JOURNAL OF EPIDEMIOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41598-019-39391-z

    DOI

    http://dx.doi.org/10.1038/s41598-019-39391-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112136187

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30765821


    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/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Universidad Mayor", 
              "id": "https://www.grid.ac/institutes/grid.412199.6", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile", 
                "Centro de Gen\u00f3mica y Bioinform\u00e1tica, Facultad de Ciencias, Universidad Mayor, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vidal", 
            "givenName": "Elena A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moyano", 
            "givenName": "Tom\u00e1s C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Andr\u00e9s Bello University", 
              "id": "https://www.grid.ac/institutes/grid.412848.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Investigaciones Biom\u00e9dicas, Facultad de Ciencias Biol\u00f3gicas y Facultad de Medicina, Universidad Andres Bello, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bustos", 
            "givenName": "Bernab\u00e9 I.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Andr\u00e9s Bello University", 
              "id": "https://www.grid.ac/institutes/grid.412848.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Investigaciones Biom\u00e9dicas, Facultad de Ciencias Biol\u00f3gicas y Facultad de Medicina, Universidad Andres Bello, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "P\u00e9rez-Palma", 
            "givenName": "Eduardo", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moraga", 
            "givenName": "Carol", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gastroenterolog\u00eda, Facultad de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Riveras", 
            "givenName": "Eleodoro", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Montecinos", 
            "givenName": "Alejandro", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gastroenterolog\u00eda, Facultad de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Az\u00f3car", 
            "givenName": "Lorena", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Soto", 
            "givenName": "Daniela C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vidal", 
            "givenName": "Mabel", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Laboratorio de Bioinform\u00e1tica y Matem\u00e1tica del Genoma (LBMG-Mathomics), Centro de Modelamiento Matem\u00e1tico, Facultad de Ciencias F\u00edsicas y Matem\u00e1ticas, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Di Genova", 
            "givenName": "Alex", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "Departamento de Medicina Familiar, Escuela de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Puschel", 
            "givenName": "Klaus", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cologne", 
              "id": "https://www.grid.ac/institutes/grid.6190.e", 
              "name": [
                "Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "N\u00fcrnberg", 
            "givenName": "Peter", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Medical Department I, University Hospital Dresden, TU Dresden, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Buch", 
            "givenName": "Stephan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Medical Department I, University Hospital Dresden, TU Dresden, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hampe", 
            "givenName": "Jochen", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Biolog\u00eda, Facultad de Ciencias, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Allende", 
            "givenName": "Miguel L.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Laboratorio de Bioinform\u00e1tica y Expresi\u00f3n G\u00e9nica, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cambiazo", 
            "givenName": "Ver\u00f3nica", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Laboratorio de Bioinform\u00e1tica y Expresi\u00f3n G\u00e9nica, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gonz\u00e1lez", 
            "givenName": "Mauricio", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Laboratorio de Bioinform\u00e1tica y Expresi\u00f3n G\u00e9nica, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hodar", 
            "givenName": "Christian", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Andr\u00e9s Bello University", 
              "id": "https://www.grid.ac/institutes/grid.412848.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Investigaciones Biom\u00e9dicas, Facultad de Ciencias Biol\u00f3gicas y Facultad de Medicina, Universidad Andres Bello, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Montecino", 
            "givenName": "Mart\u00edn", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Andr\u00e9s Bello University", 
              "id": "https://www.grid.ac/institutes/grid.412848.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Biotecnolog\u00eda Vegetal, Facultad de Ciencias Biol\u00f3gicas, Universidad Andr\u00e9s Bello, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mu\u00f1oz-Espinoza", 
            "givenName": "Claudia", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Andr\u00e9s Bello University", 
              "id": "https://www.grid.ac/institutes/grid.412848.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Biotecnolog\u00eda Vegetal, Facultad de Ciencias Biol\u00f3gicas, Universidad Andr\u00e9s Bello, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Orellana", 
            "givenName": "Ariel", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Laboratorio de Bioinform\u00e1tica y Expresi\u00f3n G\u00e9nica, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Reyes-Jara", 
            "givenName": "Ang\u00e9lica", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Laboratorio de Bioinform\u00e1tica y Matem\u00e1tica del Genoma (LBMG-Mathomics), Centro de Modelamiento Matem\u00e1tico, Facultad de Ciencias F\u00edsicas y Matem\u00e1ticas, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Travisany", 
            "givenName": "Dante", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universidad Mayor", 
              "id": "https://www.grid.ac/institutes/grid.412199.6", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Propagaci\u00f3n y Conservaci\u00f3n Vegetal (CEPROVEG), Facultad de Ciencias, Universidad Mayor, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vizoso", 
            "givenName": "Paula", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.443909.3", 
              "name": [
                "Instituto de Ciencias Biom\u00e9dicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile", 
                "Departamento de Antropolog\u00eda, Facultad de Ciencias Sociales, Universidad de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moraga", 
            "givenName": "Mauricio", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "Departmento de Estad\u00edstica, Facultad de Matem\u00e1ticas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eyheramendy", 
            "givenName": "Susana", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Medicina Familiar, Escuela de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Maass", 
            "givenName": "Alejandro", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Andr\u00e9s Bello University", 
              "id": "https://www.grid.ac/institutes/grid.412848.3", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Centro de Investigaciones Biom\u00e9dicas, Facultad de Ciencias Biol\u00f3gicas y Facultad de Medicina, Universidad Andres Bello, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "De Ferrari", 
            "givenName": "Giancarlo V.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gastroenterolog\u00eda, Facultad de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Miquel", 
            "givenName": "Juan Francisco", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pontifical Catholic University of Chile", 
              "id": "https://www.grid.ac/institutes/grid.7870.8", 
              "name": [
                "FONDAP Center for Genome Regulation, Santiago, Chile", 
                "Departamento de Gen\u00e9tica Molecular y Microbiolog\u00eda, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Guti\u00e9rrez", 
            "givenName": "Rodrigo A.", 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1016/j.ajhg.2013.07.011", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000692265"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/molbev/msm092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001758106"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btr673", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001869832"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0010809", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002775039"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10654-012-9670-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003408087", 
              "https://doi.org/10.1007/s10654-012-9670-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ncomms7472", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005886728", 
              "https://doi.org/10.1038/ncomms7472"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkt1113", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009629440"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.094052.109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010760027"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1255832", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011177229"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2013.05.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014746979"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1004023", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014820504"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1181498", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014947319"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1181498", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014947319"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/bmjopen-2011-000125", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015508711"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btv009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017380577"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btr330", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018404011"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.092759.109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020163602"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkq603", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020792304"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13073-014-0083-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021156923", 
              "https://doi.org/10.1186/s13073-014-0083-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13073-014-0083-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021156923", 
              "https://doi.org/10.1186/s13073-014-0083-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.gene.2015.03.068", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021227347"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08835", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021776500", 
              "https://doi.org/10.1038/nature08835"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08835", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021776500", 
              "https://doi.org/10.1038/nature08835"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021812064", 
              "https://doi.org/10.1038/nature15393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.40.8.619", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021847165"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature19057", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022281897", 
              "https://doi.org/10.1038/nature19057"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1004530", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023660646"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.112.147330", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025164995"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.112.147330", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025164995"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cgh.2011.04.027", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025656066"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11258", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027978732", 
              "https://doi.org/10.1038/nature11258"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0020190", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029170965"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.aab3884", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029259567"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3021", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030784697", 
              "https://doi.org/10.1038/ng.3021"
            ], 
            "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": "https://doi.org/10.1006/mgme.1999.2939", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031919058"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0016-5085(98)70266-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032129382"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0016-5085(98)70266-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032129382"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0043486", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033405658"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1005602", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034432999"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.488", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038790762", 
              "https://doi.org/10.1038/ng.488"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajpa.10380", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042570750"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0051311", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044906400"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2008-9-8-109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046299243", 
              "https://doi.org/10.1186/gb-2008-9-8-109"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkt1229", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047459836"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkt1229", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047459836"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/sysbio/sys029", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049138722"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg3871", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049432588", 
              "https://doi.org/10.1038/nrg3871"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2892", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050728268", 
              "https://doi.org/10.1038/ng.2892"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0903045106", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052061037"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09298", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052674054", 
              "https://doi.org/10.1038/nature09298"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09298", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052674054", 
              "https://doi.org/10.1038/nature09298"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2013.11.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053034949"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/hep.25563", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053476055"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4067/s0034-98872002000200001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1072187024"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1079211758", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.7554/elife.24284", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085057034"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkx356", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085320790"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1006756", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085579902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1558-5646.1984.tb05657.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085737796"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41467-017-01194-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1092199942", 
              "https://doi.org/10.1038/s41467-017-01194-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-017-0062-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1100162830", 
              "https://doi.org/10.1038/s41431-017-0062-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/bty008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1100277727"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/ajcn/nqy035", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101008964"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12272-018-1016-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101558358", 
              "https://doi.org/10.1007/s12272-018-1016-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12272-018-1016-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101558358", 
              "https://doi.org/10.1007/s12272-018-1016-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12272-018-1016-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101558358", 
              "https://doi.org/10.1007/s12272-018-1016-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12272-018-1016-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101558358", 
              "https://doi.org/10.1007/s12272-018-1016-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12272-018-1016-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101558358", 
              "https://doi.org/10.1007/s12272-018-1016-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1080/01635581.2018.1460674", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103250087"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1080/01635581.2018.1460674", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103250087"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00438-018-1453-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1104528273", 
              "https://doi.org/10.1007/s00438-018-1453-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41598-018-35852-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111671567", 
              "https://doi.org/10.1038/s41598-018-35852-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41598-018-35852-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111671567", 
              "https://doi.org/10.1038/s41598-018-35852-z"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2019-12", 
        "datePublishedReg": "2019-12-01", 
        "description": "Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1\u2009\u00d7\u2009106 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. Additionally, we found that HUI genomes contain variants in genes associated with 5 of the 6 leading causes of noncommunicable diseases in Chile, which may have an impact on the risk of prevalent diseases in Chilean and Amerindian populations. Our data represents a useful resource that can contribute to population-based studies and for the design of early diagnostics or prevention tools for Native and admixed Latin American populations.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/s41598-019-39391-z", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1045337", 
            "issn": [
              "2045-2322"
            ], 
            "name": "Scientific Reports", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "9"
          }
        ], 
        "name": "Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans", 
        "pagination": "2132", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "9a3c1c4703b3dc8bf1f78810e68b07a95d464e89b3537d09bea9bba0752ca53a"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "30765821"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "101563288"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41598-019-39391-z"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1112136187"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41598-019-39391-z", 
          "https://app.dimensions.ai/details/publication/pub.1112136187"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T09:09", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000338_0000000338/records_47966_00000002.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/s41598-019-39391-z"
      }
    ]
     

    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/s41598-019-39391-z'

    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/s41598-019-39391-z'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-019-39391-z'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-019-39391-z'


     

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

    478 TRIPLES      21 PREDICATES      90 URIs      21 LITERALS      9 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41598-019-39391-z schema:about anzsrc-for:06
    2 anzsrc-for:0604
    3 schema:author Na80b4fb844d74c16ab1505b1892e3ceb
    4 schema:citation sg:pub.10.1007/s00438-018-1453-2
    5 sg:pub.10.1007/s10654-012-9670-1
    6 sg:pub.10.1007/s12272-018-1016-4
    7 sg:pub.10.1038/nature08835
    8 sg:pub.10.1038/nature09298
    9 sg:pub.10.1038/nature11258
    10 sg:pub.10.1038/nature15393
    11 sg:pub.10.1038/nature15394
    12 sg:pub.10.1038/nature19057
    13 sg:pub.10.1038/ncomms7472
    14 sg:pub.10.1038/ng.2892
    15 sg:pub.10.1038/ng.3021
    16 sg:pub.10.1038/ng.488
    17 sg:pub.10.1038/nrg3871
    18 sg:pub.10.1038/s41431-017-0062-6
    19 sg:pub.10.1038/s41467-017-01194-z
    20 sg:pub.10.1038/s41598-018-35852-z
    21 sg:pub.10.1186/gb-2008-9-8-109
    22 sg:pub.10.1186/s13073-014-0083-5
    23 https://app.dimensions.ai/details/publication/pub.1079211758
    24 https://doi.org/10.1002/ajpa.10380
    25 https://doi.org/10.1002/hep.25563
    26 https://doi.org/10.1006/mgme.1999.2939
    27 https://doi.org/10.1016/j.ajhg.2013.05.003
    28 https://doi.org/10.1016/j.ajhg.2013.07.011
    29 https://doi.org/10.1016/j.ajhg.2013.11.005
    30 https://doi.org/10.1016/j.cgh.2011.04.027
    31 https://doi.org/10.1016/j.gene.2015.03.068
    32 https://doi.org/10.1016/s0016-5085(98)70266-5
    33 https://doi.org/10.1073/pnas.0903045106
    34 https://doi.org/10.1080/01635581.2018.1460674
    35 https://doi.org/10.1093/ajcn/nqy035
    36 https://doi.org/10.1093/bioinformatics/btr330
    37 https://doi.org/10.1093/bioinformatics/btr673
    38 https://doi.org/10.1093/bioinformatics/btv009
    39 https://doi.org/10.1093/bioinformatics/bty008
    40 https://doi.org/10.1093/molbev/msm092
    41 https://doi.org/10.1093/nar/gkq603
    42 https://doi.org/10.1093/nar/gkt1113
    43 https://doi.org/10.1093/nar/gkt1229
    44 https://doi.org/10.1093/nar/gkx356
    45 https://doi.org/10.1093/sysbio/sys029
    46 https://doi.org/10.1101/gr.092759.109
    47 https://doi.org/10.1101/gr.094052.109
    48 https://doi.org/10.1111/j.1558-5646.1984.tb05657.x
    49 https://doi.org/10.1126/science.1181498
    50 https://doi.org/10.1126/science.1255832
    51 https://doi.org/10.1126/science.aab3884
    52 https://doi.org/10.1136/bmjopen-2011-000125
    53 https://doi.org/10.1136/jmg.40.8.619
    54 https://doi.org/10.1371/journal.pgen.0020190
    55 https://doi.org/10.1371/journal.pgen.1004023
    56 https://doi.org/10.1371/journal.pgen.1004530
    57 https://doi.org/10.1371/journal.pgen.1005602
    58 https://doi.org/10.1371/journal.pgen.1006756
    59 https://doi.org/10.1371/journal.pone.0010809
    60 https://doi.org/10.1371/journal.pone.0043486
    61 https://doi.org/10.1371/journal.pone.0051311
    62 https://doi.org/10.1534/genetics.112.147330
    63 https://doi.org/10.4067/s0034-98872002000200001
    64 https://doi.org/10.7554/elife.24284
    65 schema:datePublished 2019-12
    66 schema:datePublishedReg 2019-12-01
    67 schema:description Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 10<sup>6</sup> single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. Additionally, we found that HUI genomes contain variants in genes associated with 5 of the 6 leading causes of noncommunicable diseases in Chile, which may have an impact on the risk of prevalent diseases in Chilean and Amerindian populations. Our data represents a useful resource that can contribute to population-based studies and for the design of early diagnostics or prevention tools for Native and admixed Latin American populations.
    68 schema:genre research_article
    69 schema:inLanguage en
    70 schema:isAccessibleForFree true
    71 schema:isPartOf N5c422d3814354ab09b3debd133e257bd
    72 N8d0b3876b5b9483fb02c31517d9115b8
    73 sg:journal.1045337
    74 schema:name Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans
    75 schema:pagination 2132
    76 schema:productId N1f02d60a7b31416bbb87bfef5da17d62
    77 N5462de025ba74c67aee2e1e3dd61c074
    78 N63214af7a0294ae1bdaf65f89ccac877
    79 N6a3ca03b53a34ef59a08f5794ab2b557
    80 N9445e759c2cd4cb2b0f46ee88af95b98
    81 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112136187
    82 https://doi.org/10.1038/s41598-019-39391-z
    83 schema:sdDatePublished 2019-04-11T09:09
    84 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    85 schema:sdPublisher N9b7b4007c8f049bd984b7b0b78689acd
    86 schema:url https://www.nature.com/articles/s41598-019-39391-z
    87 sgo:license sg:explorer/license/
    88 sgo:sdDataset articles
    89 rdf:type schema:ScholarlyArticle
    90 N096d4420b8c84877b72103694236e7f9 schema:affiliation https://www.grid.ac/institutes/grid.412848.3
    91 schema:familyName De Ferrari
    92 schema:givenName Giancarlo V.
    93 rdf:type schema:Person
    94 N0c0b909af3e843b3bdaa5d792c594746 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    95 schema:familyName Puschel
    96 schema:givenName Klaus
    97 rdf:type schema:Person
    98 N0dd7f194a8d7401e9ffee543ee61f3f1 schema:affiliation N4a902e35beb944bd876f68c97aa5f5b8
    99 schema:familyName Buch
    100 schema:givenName Stephan
    101 rdf:type schema:Person
    102 N1524db0d0a514e569a97562028b9463a schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    103 schema:familyName Travisany
    104 schema:givenName Dante
    105 rdf:type schema:Person
    106 N1dedb78cde1b418c9ea9cf8ea7390dc7 rdf:first N72ad3996a5a84bbdaffaa02589d8ee3f
    107 rdf:rest N2b6dd84f254d4cca8894c24798f56174
    108 N1f02d60a7b31416bbb87bfef5da17d62 schema:name dimensions_id
    109 schema:value pub.1112136187
    110 rdf:type schema:PropertyValue
    111 N20394b57a80e4f819426c12a33eed3ec rdf:first N2c6ee535d23b4b8095ea87e75aa8b2c6
    112 rdf:rest N5513a476fb744134a163faf472b74656
    113 N2260f3cb1f44457da4b8d66bc924344e schema:affiliation N913b6fb4b6fb4b66ab8ada2179f236f6
    114 schema:familyName Hampe
    115 schema:givenName Jochen
    116 rdf:type schema:Person
    117 N22a50de984524a8c8bef7b228f0c5268 rdf:first N0c0b909af3e843b3bdaa5d792c594746
    118 rdf:rest N5de33e7d248c46609c1b686a033e0055
    119 N274012b5b32446aeb7971206099c9a74 rdf:first Nf8b764b58d6a4d83b808b8126bdb79bc
    120 rdf:rest N53d7782850ef4918912ebee2bbdc6732
    121 N2b6dd84f254d4cca8894c24798f56174 rdf:first Nbfbf4f7e2f0c443283127d0a26868519
    122 rdf:rest N2b88a1f9bd8d4530a81fbbd9dd65e8dc
    123 N2b88a1f9bd8d4530a81fbbd9dd65e8dc rdf:first N096d4420b8c84877b72103694236e7f9
    124 rdf:rest Nb0d82e2486d144878dadf76fb5b092d9
    125 N2c6ee535d23b4b8095ea87e75aa8b2c6 schema:affiliation https://www.grid.ac/institutes/grid.412848.3
    126 schema:familyName Pérez-Palma
    127 schema:givenName Eduardo
    128 rdf:type schema:Person
    129 N324f0932bde043f29ede63f3ab01c521 rdf:first N90e3fba475f24f8f93da6eef275f479a
    130 rdf:rest N274012b5b32446aeb7971206099c9a74
    131 N32ecfdc357fa4ae892afb6b347216c1d rdf:first N72b8e02c9b4149168caab1c92fc11839
    132 rdf:rest Ne2752cdba6394e9e8fdbe5c6d3bc2e5c
    133 N337e534a2f064b6198d93297f707e9b8 schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    134 schema:familyName Hodar
    135 schema:givenName Christian
    136 rdf:type schema:Person
    137 N372e6b76cf75435fac0e04f589091435 schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    138 schema:familyName González
    139 schema:givenName Mauricio
    140 rdf:type schema:Person
    141 N3d6e210f94eb469782b2e3851741c922 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    142 schema:familyName Montecinos
    143 schema:givenName Alejandro
    144 rdf:type schema:Person
    145 N40bfa81d6781487e9c8cd86a5dbd9a70 schema:affiliation https://www.grid.ac/institutes/grid.412199.6
    146 schema:familyName Vizoso
    147 schema:givenName Paula
    148 rdf:type schema:Person
    149 N49decf29e1a94fd4acfac1a60ffd782f rdf:first N90bbb7def4e84e24991efdcfa01b00fd
    150 rdf:rest Na6574b058fc24c588d93d3f37bf98a3c
    151 N4a902e35beb944bd876f68c97aa5f5b8 schema:name Medical Department I, University Hospital Dresden, TU Dresden, Germany
    152 rdf:type schema:Organization
    153 N53d7782850ef4918912ebee2bbdc6732 rdf:first N372e6b76cf75435fac0e04f589091435
    154 rdf:rest Nced49b1ac4494b6b915eddb5dc5b5e6f
    155 N5462de025ba74c67aee2e1e3dd61c074 schema:name nlm_unique_id
    156 schema:value 101563288
    157 rdf:type schema:PropertyValue
    158 N5513a476fb744134a163faf472b74656 rdf:first N5af8c79e20094efcbb33eeb21884cd92
    159 rdf:rest N8a1a82c2284e4ee9a96860a27697cb39
    160 N5af8c79e20094efcbb33eeb21884cd92 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    161 schema:familyName Moraga
    162 schema:givenName Carol
    163 rdf:type schema:Person
    164 N5c422d3814354ab09b3debd133e257bd schema:issueNumber 1
    165 rdf:type schema:PublicationIssue
    166 N5de33e7d248c46609c1b686a033e0055 rdf:first Nf617cadae1d14d228cb855b14a1d870a
    167 rdf:rest Nb42f268613044f6e8c12a22377510db6
    168 N63214af7a0294ae1bdaf65f89ccac877 schema:name doi
    169 schema:value 10.1038/s41598-019-39391-z
    170 rdf:type schema:PropertyValue
    171 N647fc6fe9da2414f8efb80952a5e56d9 rdf:first Nf1d53a76e9eb4a24832840b10b0dc868
    172 rdf:rest Nca2e24dad0d24e04b1bd49434c172b44
    173 N68c891156a514a839ec46907d6fc975f schema:affiliation https://www.grid.ac/institutes/grid.412848.3
    174 schema:familyName Muñoz-Espinoza
    175 schema:givenName Claudia
    176 rdf:type schema:Person
    177 N6a3ca03b53a34ef59a08f5794ab2b557 schema:name pubmed_id
    178 schema:value 30765821
    179 rdf:type schema:PropertyValue
    180 N728f3bfef716406ba3ccef5c1fe3c08f schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    181 schema:familyName Miquel
    182 schema:givenName Juan Francisco
    183 rdf:type schema:Person
    184 N72ad3996a5a84bbdaffaa02589d8ee3f schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    185 schema:familyName Eyheramendy
    186 schema:givenName Susana
    187 rdf:type schema:Person
    188 N72b8e02c9b4149168caab1c92fc11839 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    189 schema:familyName Azócar
    190 schema:givenName Lorena
    191 rdf:type schema:Person
    192 N79f78012b097467fade6b797833ba23d rdf:first Nc2963a32f60f4a0c9b36bc7e9e553f3a
    193 rdf:rest rdf:nil
    194 N7a708bc0bb1748c59e754363269f32bb rdf:first N2260f3cb1f44457da4b8d66bc924344e
    195 rdf:rest N324f0932bde043f29ede63f3ab01c521
    196 N8471d2a9bc764ce9bd1eb32fa9b8db6d rdf:first N1524db0d0a514e569a97562028b9463a
    197 rdf:rest Ned7a9d04d4f941a796b79e8c1767bc33
    198 N85296ea201964ed781a1b1f8277063c8 rdf:first N90ecc25d57604cf69c2f65b32a19b10a
    199 rdf:rest N86934e470bf74954abe2a86b7c277c9a
    200 N86934e470bf74954abe2a86b7c277c9a rdf:first N68c891156a514a839ec46907d6fc975f
    201 rdf:rest N99a6b0f44400425ea87b2c0c3a65cd07
    202 N8a1a82c2284e4ee9a96860a27697cb39 rdf:first Nec30289724b94b829a0a311753963c16
    203 rdf:rest Ndc16ef1468964540aef56d30392193cb
    204 N8d0b3876b5b9483fb02c31517d9115b8 schema:volumeNumber 9
    205 rdf:type schema:PublicationVolume
    206 N90bbb7def4e84e24991efdcfa01b00fd schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    207 schema:familyName Vidal
    208 schema:givenName Mabel
    209 rdf:type schema:Person
    210 N90e3fba475f24f8f93da6eef275f479a schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    211 schema:familyName Allende
    212 schema:givenName Miguel L.
    213 rdf:type schema:Person
    214 N90ecc25d57604cf69c2f65b32a19b10a schema:affiliation https://www.grid.ac/institutes/grid.412848.3
    215 schema:familyName Montecino
    216 schema:givenName Martín
    217 rdf:type schema:Person
    218 N913b6fb4b6fb4b66ab8ada2179f236f6 schema:name Medical Department I, University Hospital Dresden, TU Dresden, Germany
    219 rdf:type schema:Organization
    220 N9176476bee2248e48fee7cc23e4e8949 schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    221 schema:familyName Reyes-Jara
    222 schema:givenName Angélica
    223 rdf:type schema:Person
    224 N9445e759c2cd4cb2b0f46ee88af95b98 schema:name readcube_id
    225 schema:value 9a3c1c4703b3dc8bf1f78810e68b07a95d464e89b3537d09bea9bba0752ca53a
    226 rdf:type schema:PropertyValue
    227 N99a6b0f44400425ea87b2c0c3a65cd07 rdf:first Naacbdda3a48a4e5b90f9e93f2ca6514c
    228 rdf:rest Nad18ad2e70884e9dbb691b6b7eab9d94
    229 N9b7b4007c8f049bd984b7b0b78689acd schema:name Springer Nature - SN SciGraph project
    230 rdf:type schema:Organization
    231 Na0307cb3e30f482a8fb239c854c4bb99 schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    232 schema:familyName Moraga
    233 schema:givenName Mauricio
    234 rdf:type schema:Person
    235 Na6574b058fc24c588d93d3f37bf98a3c rdf:first Nfc81f78ffcb44b9e836973eb99b236d2
    236 rdf:rest N22a50de984524a8c8bef7b228f0c5268
    237 Na80b4fb844d74c16ab1505b1892e3ceb rdf:first Ne7ec8b7e998d4c40ac9b3eaf1f345a81
    238 rdf:rest N647fc6fe9da2414f8efb80952a5e56d9
    239 Naacbdda3a48a4e5b90f9e93f2ca6514c schema:affiliation https://www.grid.ac/institutes/grid.412848.3
    240 schema:familyName Orellana
    241 schema:givenName Ariel
    242 rdf:type schema:Person
    243 Nad18ad2e70884e9dbb691b6b7eab9d94 rdf:first N9176476bee2248e48fee7cc23e4e8949
    244 rdf:rest N8471d2a9bc764ce9bd1eb32fa9b8db6d
    245 Nad741da7774d4e7d85bdbae149cf36c6 rdf:first Na0307cb3e30f482a8fb239c854c4bb99
    246 rdf:rest N1dedb78cde1b418c9ea9cf8ea7390dc7
    247 Nb0d82e2486d144878dadf76fb5b092d9 rdf:first N728f3bfef716406ba3ccef5c1fe3c08f
    248 rdf:rest N79f78012b097467fade6b797833ba23d
    249 Nb42f268613044f6e8c12a22377510db6 rdf:first N0dd7f194a8d7401e9ffee543ee61f3f1
    250 rdf:rest N7a708bc0bb1748c59e754363269f32bb
    251 Nbfbf4f7e2f0c443283127d0a26868519 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    252 schema:familyName Maass
    253 schema:givenName Alejandro
    254 rdf:type schema:Person
    255 Nc2963a32f60f4a0c9b36bc7e9e553f3a schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    256 schema:familyName Gutiérrez
    257 schema:givenName Rodrigo A.
    258 rdf:type schema:Person
    259 Nca2e24dad0d24e04b1bd49434c172b44 rdf:first Ne3678fa6a3ea4e0dbef64e6a22558ab0
    260 rdf:rest N20394b57a80e4f819426c12a33eed3ec
    261 Nced49b1ac4494b6b915eddb5dc5b5e6f rdf:first N337e534a2f064b6198d93297f707e9b8
    262 rdf:rest N85296ea201964ed781a1b1f8277063c8
    263 Nd49ca0ffd9444874b0c497a11392619a schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    264 schema:familyName Soto
    265 schema:givenName Daniela C.
    266 rdf:type schema:Person
    267 Ndc16ef1468964540aef56d30392193cb rdf:first N3d6e210f94eb469782b2e3851741c922
    268 rdf:rest N32ecfdc357fa4ae892afb6b347216c1d
    269 Ne2752cdba6394e9e8fdbe5c6d3bc2e5c rdf:first Nd49ca0ffd9444874b0c497a11392619a
    270 rdf:rest N49decf29e1a94fd4acfac1a60ffd782f
    271 Ne3678fa6a3ea4e0dbef64e6a22558ab0 schema:affiliation https://www.grid.ac/institutes/grid.412848.3
    272 schema:familyName Bustos
    273 schema:givenName Bernabé I.
    274 rdf:type schema:Person
    275 Ne7ec8b7e998d4c40ac9b3eaf1f345a81 schema:affiliation https://www.grid.ac/institutes/grid.412199.6
    276 schema:familyName Vidal
    277 schema:givenName Elena A.
    278 rdf:type schema:Person
    279 Nec30289724b94b829a0a311753963c16 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    280 schema:familyName Riveras
    281 schema:givenName Eleodoro
    282 rdf:type schema:Person
    283 Ned7a9d04d4f941a796b79e8c1767bc33 rdf:first N40bfa81d6781487e9c8cd86a5dbd9a70
    284 rdf:rest Nad741da7774d4e7d85bdbae149cf36c6
    285 Nf1d53a76e9eb4a24832840b10b0dc868 schema:affiliation https://www.grid.ac/institutes/grid.7870.8
    286 schema:familyName Moyano
    287 schema:givenName Tomás C.
    288 rdf:type schema:Person
    289 Nf617cadae1d14d228cb855b14a1d870a schema:affiliation https://www.grid.ac/institutes/grid.6190.e
    290 schema:familyName Nürnberg
    291 schema:givenName Peter
    292 rdf:type schema:Person
    293 Nf8b764b58d6a4d83b808b8126bdb79bc schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    294 schema:familyName Cambiazo
    295 schema:givenName Verónica
    296 rdf:type schema:Person
    297 Nfc81f78ffcb44b9e836973eb99b236d2 schema:affiliation https://www.grid.ac/institutes/grid.443909.3
    298 schema:familyName Di Genova
    299 schema:givenName Alex
    300 rdf:type schema:Person
    301 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    302 schema:name Biological Sciences
    303 rdf:type schema:DefinedTerm
    304 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    305 schema:name Genetics
    306 rdf:type schema:DefinedTerm
    307 sg:journal.1045337 schema:issn 2045-2322
    308 schema:name Scientific Reports
    309 rdf:type schema:Periodical
    310 sg:pub.10.1007/s00438-018-1453-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1104528273
    311 https://doi.org/10.1007/s00438-018-1453-2
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1007/s10654-012-9670-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003408087
    314 https://doi.org/10.1007/s10654-012-9670-1
    315 rdf:type schema:CreativeWork
    316 sg:pub.10.1007/s12272-018-1016-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101558358
    317 https://doi.org/10.1007/s12272-018-1016-4
    318 rdf:type schema:CreativeWork
    319 sg:pub.10.1038/nature08835 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021776500
    320 https://doi.org/10.1038/nature08835
    321 rdf:type schema:CreativeWork
    322 sg:pub.10.1038/nature09298 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052674054
    323 https://doi.org/10.1038/nature09298
    324 rdf:type schema:CreativeWork
    325 sg:pub.10.1038/nature11258 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027978732
    326 https://doi.org/10.1038/nature11258
    327 rdf:type schema:CreativeWork
    328 sg:pub.10.1038/nature15393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021812064
    329 https://doi.org/10.1038/nature15393
    330 rdf:type schema:CreativeWork
    331 sg:pub.10.1038/nature15394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031274231
    332 https://doi.org/10.1038/nature15394
    333 rdf:type schema:CreativeWork
    334 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
    335 https://doi.org/10.1038/nature19057
    336 rdf:type schema:CreativeWork
    337 sg:pub.10.1038/ncomms7472 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005886728
    338 https://doi.org/10.1038/ncomms7472
    339 rdf:type schema:CreativeWork
    340 sg:pub.10.1038/ng.2892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728268
    341 https://doi.org/10.1038/ng.2892
    342 rdf:type schema:CreativeWork
    343 sg:pub.10.1038/ng.3021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030784697
    344 https://doi.org/10.1038/ng.3021
    345 rdf:type schema:CreativeWork
    346 sg:pub.10.1038/ng.488 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038790762
    347 https://doi.org/10.1038/ng.488
    348 rdf:type schema:CreativeWork
    349 sg:pub.10.1038/nrg3871 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049432588
    350 https://doi.org/10.1038/nrg3871
    351 rdf:type schema:CreativeWork
    352 sg:pub.10.1038/s41431-017-0062-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100162830
    353 https://doi.org/10.1038/s41431-017-0062-6
    354 rdf:type schema:CreativeWork
    355 sg:pub.10.1038/s41467-017-01194-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1092199942
    356 https://doi.org/10.1038/s41467-017-01194-z
    357 rdf:type schema:CreativeWork
    358 sg:pub.10.1038/s41598-018-35852-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1111671567
    359 https://doi.org/10.1038/s41598-018-35852-z
    360 rdf:type schema:CreativeWork
    361 sg:pub.10.1186/gb-2008-9-8-109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046299243
    362 https://doi.org/10.1186/gb-2008-9-8-109
    363 rdf:type schema:CreativeWork
    364 sg:pub.10.1186/s13073-014-0083-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021156923
    365 https://doi.org/10.1186/s13073-014-0083-5
    366 rdf:type schema:CreativeWork
    367 https://app.dimensions.ai/details/publication/pub.1079211758 schema:CreativeWork
    368 https://doi.org/10.1002/ajpa.10380 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042570750
    369 rdf:type schema:CreativeWork
    370 https://doi.org/10.1002/hep.25563 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053476055
    371 rdf:type schema:CreativeWork
    372 https://doi.org/10.1006/mgme.1999.2939 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031919058
    373 rdf:type schema:CreativeWork
    374 https://doi.org/10.1016/j.ajhg.2013.05.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014746979
    375 rdf:type schema:CreativeWork
    376 https://doi.org/10.1016/j.ajhg.2013.07.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000692265
    377 rdf:type schema:CreativeWork
    378 https://doi.org/10.1016/j.ajhg.2013.11.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053034949
    379 rdf:type schema:CreativeWork
    380 https://doi.org/10.1016/j.cgh.2011.04.027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025656066
    381 rdf:type schema:CreativeWork
    382 https://doi.org/10.1016/j.gene.2015.03.068 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021227347
    383 rdf:type schema:CreativeWork
    384 https://doi.org/10.1016/s0016-5085(98)70266-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032129382
    385 rdf:type schema:CreativeWork
    386 https://doi.org/10.1073/pnas.0903045106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052061037
    387 rdf:type schema:CreativeWork
    388 https://doi.org/10.1080/01635581.2018.1460674 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103250087
    389 rdf:type schema:CreativeWork
    390 https://doi.org/10.1093/ajcn/nqy035 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101008964
    391 rdf:type schema:CreativeWork
    392 https://doi.org/10.1093/bioinformatics/btr330 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018404011
    393 rdf:type schema:CreativeWork
    394 https://doi.org/10.1093/bioinformatics/btr673 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001869832
    395 rdf:type schema:CreativeWork
    396 https://doi.org/10.1093/bioinformatics/btv009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017380577
    397 rdf:type schema:CreativeWork
    398 https://doi.org/10.1093/bioinformatics/bty008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100277727
    399 rdf:type schema:CreativeWork
    400 https://doi.org/10.1093/molbev/msm092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001758106
    401 rdf:type schema:CreativeWork
    402 https://doi.org/10.1093/nar/gkq603 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020792304
    403 rdf:type schema:CreativeWork
    404 https://doi.org/10.1093/nar/gkt1113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009629440
    405 rdf:type schema:CreativeWork
    406 https://doi.org/10.1093/nar/gkt1229 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047459836
    407 rdf:type schema:CreativeWork
    408 https://doi.org/10.1093/nar/gkx356 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085320790
    409 rdf:type schema:CreativeWork
    410 https://doi.org/10.1093/sysbio/sys029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049138722
    411 rdf:type schema:CreativeWork
    412 https://doi.org/10.1101/gr.092759.109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020163602
    413 rdf:type schema:CreativeWork
    414 https://doi.org/10.1101/gr.094052.109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010760027
    415 rdf:type schema:CreativeWork
    416 https://doi.org/10.1111/j.1558-5646.1984.tb05657.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1085737796
    417 rdf:type schema:CreativeWork
    418 https://doi.org/10.1126/science.1181498 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014947319
    419 rdf:type schema:CreativeWork
    420 https://doi.org/10.1126/science.1255832 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011177229
    421 rdf:type schema:CreativeWork
    422 https://doi.org/10.1126/science.aab3884 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029259567
    423 rdf:type schema:CreativeWork
    424 https://doi.org/10.1136/bmjopen-2011-000125 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015508711
    425 rdf:type schema:CreativeWork
    426 https://doi.org/10.1136/jmg.40.8.619 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021847165
    427 rdf:type schema:CreativeWork
    428 https://doi.org/10.1371/journal.pgen.0020190 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029170965
    429 rdf:type schema:CreativeWork
    430 https://doi.org/10.1371/journal.pgen.1004023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014820504
    431 rdf:type schema:CreativeWork
    432 https://doi.org/10.1371/journal.pgen.1004530 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023660646
    433 rdf:type schema:CreativeWork
    434 https://doi.org/10.1371/journal.pgen.1005602 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034432999
    435 rdf:type schema:CreativeWork
    436 https://doi.org/10.1371/journal.pgen.1006756 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085579902
    437 rdf:type schema:CreativeWork
    438 https://doi.org/10.1371/journal.pone.0010809 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002775039
    439 rdf:type schema:CreativeWork
    440 https://doi.org/10.1371/journal.pone.0043486 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033405658
    441 rdf:type schema:CreativeWork
    442 https://doi.org/10.1371/journal.pone.0051311 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044906400
    443 rdf:type schema:CreativeWork
    444 https://doi.org/10.1534/genetics.112.147330 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025164995
    445 rdf:type schema:CreativeWork
    446 https://doi.org/10.4067/s0034-98872002000200001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072187024
    447 rdf:type schema:CreativeWork
    448 https://doi.org/10.7554/elife.24284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085057034
    449 rdf:type schema:CreativeWork
    450 https://www.grid.ac/institutes/grid.412199.6 schema:alternateName Universidad Mayor
    451 schema:name Centro de Genómica y Bioinformática, Facultad de Ciencias, Universidad Mayor, Santiago, Chile
    452 Centro de Propagación y Conservación Vegetal (CEPROVEG), Facultad de Ciencias, Universidad Mayor, Santiago, Chile
    453 Departamento de Genética Molecular y Microbiología, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile
    454 FONDAP Center for Genome Regulation, Santiago, Chile
    455 rdf:type schema:Organization
    456 https://www.grid.ac/institutes/grid.412848.3 schema:alternateName Andrés Bello University
    457 schema:name Centro de Biotecnología Vegetal, Facultad de Ciencias Biológicas, Universidad Andrés Bello, Santiago, Chile
    458 Centro de Investigaciones Biomédicas, Facultad de Ciencias Biológicas y Facultad de Medicina, Universidad Andres Bello, Santiago, Chile
    459 FONDAP Center for Genome Regulation, Santiago, Chile
    460 rdf:type schema:Organization
    461 https://www.grid.ac/institutes/grid.443909.3 schema:alternateName University of Chile
    462 schema:name Departamento de Antropología, Facultad de Ciencias Sociales, Universidad de Chile, Santiago, Chile
    463 Departamento de Biología, Facultad de Ciencias, Universidad de Chile, Santiago, Chile
    464 FONDAP Center for Genome Regulation, Santiago, Chile
    465 Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile
    466 Laboratorio de Bioinformática y Expresión Génica, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile
    467 Laboratorio de Bioinformática y Matemática del Genoma (LBMG-Mathomics), Centro de Modelamiento Matemático, Facultad de Ciencias Físicas y Matemáticas, Universidad de Chile, Santiago, Chile
    468 rdf:type schema:Organization
    469 https://www.grid.ac/institutes/grid.6190.e schema:alternateName University of Cologne
    470 schema:name Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany
    471 rdf:type schema:Organization
    472 https://www.grid.ac/institutes/grid.7870.8 schema:alternateName Pontifical Catholic University of Chile
    473 schema:name Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
    474 Departamento de Genética Molecular y Microbiología, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile
    475 Departamento de Medicina Familiar, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
    476 Departmento de Estadística, Facultad de Matemáticas, Pontificia Universidad Católica de Chile, Santiago, Chile
    477 FONDAP Center for Genome Regulation, Santiago, Chile
    478 rdf:type schema:Organization
     




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


    ...