The complete genome of an individual by massively parallel DNA sequencing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-04-17

AUTHORS

David A. Wheeler, Maithreyan Srinivasan, Michael Egholm, Yufeng Shen, Lei Chen, Amy McGuire, Wen He, Yi-Ju Chen, Vinod Makhijani, G. Thomas Roth, Xavier Gomes, Karrie Tartaro, Faheem Niazi, Cynthia L. Turcotte, Gerard P. Irzyk, James R. Lupski, Craig Chinault, Xing-zhi Song, Yue Liu, Ye Yuan, Lynne Nazareth, Xiang Qin, Donna M. Muzny, Marcel Margulies, George M. Weinstock, Richard A. Gibbs, Jonathan M. Rothberg

ABSTRACT

The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels. This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. Comparison of the sequence to the reference genome led to the identification of 3.3 million single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. In addition, we accurately identified small-scale (2-40,000 base pair (bp)) insertion and deletion polymorphism as well as copy number variation resulting in the large-scale gain and loss of chromosomal segments ranging from 26,000 to 1.5 million base pairs. Overall, these results agree well with recent results of sequencing of a single individual by traditional methods. However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system. As a result, we further demonstrate the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing. This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'. More... »

PAGES

872

Journal

TITLE

Nature

ISSUE

7189

VOLUME

452

Author Affiliations

Related Patents

  • Normalizing Chromosomes For The Determination And Verification Of Common And Rare Chromosomal Aneuploidies
  • Phased Whole Genome Genetic Risk In A Family Quartet
  • Noninvasive Diagnosis Of Fetal Aneuploidy By Sequencing
  • Microsequencer-Whole Genome Sequencer
  • Methods For Determining Fraction Of Fetal Nucleic Acids In Maternal Samples
  • Bambam: Parallel Comparative Analysis Of High-Throughput Sequencing Data
  • Microsequencer-Whole Genome Sequencer
  • Noninvasive Diagnosis Of Fetal Aneuploidy By Sequencing
  • Bambam: Parallel Comparative Analysis Of High-Throughput Sequencing Data
  • Bambam: Parallel Comparative Analysis Of High-Throughput Sequencing Data
  • Systems And Methods For Using Paired-End Data In Directed Acyclic Structure
  • Resolving Genome Fractions Using Polymorphism Counts
  • Diagnosing Cancer Using Genomic Sequencing
  • Clinical Use Of An Alu Element Based Bioinformatics Methodology For The Detection And Treatment Of Cancer
  • Non-Invasive Determination Of Fetal Inheritance Of Parental Haplotypes At The Genome-Wide Scale
  • Noninvasive Diagnosis Of Fetal Aneuploidy By Sequencing
  • Diagnosing Fetal Chromosomal Aneuploidy Using Paired End
  • Bambam: Parallel Comparative Analysis Of High-Throughput Sequencing Data
  • Bambam: Parallel Comparative Analysis Of High-Throughput Sequencing Data
  • Bambam: Parallel Comparative Analysis Of High-Throughput Sequencing Data
  • Method And System For The Use Of Biomarkers For Regulatory Dysfunction In Disease
  • Methods And Systems For Aligning Sequences
  • Ancestral-Specific Reference Genomes And Uses Thereof
  • Paired End Bead Amplification And High Throughput Sequencing
  • Detecting And Classifying Copy Number Variation
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature06884

    DOI

    http://dx.doi.org/10.1038/nature06884

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1047672670

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18421352


    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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Alleles", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Computational Biology", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Variation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genomics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Individuality", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Oligonucleotide Array Sequence Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Reproducibility of Results", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sensitivity and Specificity", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Alignment", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Software", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wheeler", 
            "givenName": "David A.", 
            "id": "sg:person.01007105701.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007105701.81"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Srinivasan", 
            "givenName": "Maithreyan", 
            "id": "sg:person.01055221101.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055221101.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Egholm", 
            "givenName": "Michael", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shen", 
            "givenName": "Yufeng", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chen", 
            "givenName": "Lei", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Center for Ethics and Health Policy, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McGuire", 
            "givenName": "Amy", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "He", 
            "givenName": "Wen", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chen", 
            "givenName": "Yi-Ju", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Makhijani", 
            "givenName": "Vinod", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Roth", 
            "givenName": "G. Thomas", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gomes", 
            "givenName": "Xavier", 
            "id": "sg:person.01303150226.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303150226.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tartaro", 
            "givenName": "Karrie", 
            "id": "sg:person.01102561450.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102561450.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Niazi", 
            "givenName": "Faheem", 
            "id": "sg:person.01101766405.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101766405.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Turcotte", 
            "givenName": "Cynthia L.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Irzyk", 
            "givenName": "Gerard P.", 
            "id": "sg:person.07732467560.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07732467560.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA", 
                "Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA", 
                "Texas Children\u2019s Hospital, Texas Medical Center, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lupski", 
            "givenName": "James R.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chinault", 
            "givenName": "Craig", 
            "id": "sg:person.01357652401.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357652401.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Song", 
            "givenName": "Xing-zhi", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Liu", 
            "givenName": "Yue", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yuan", 
            "givenName": "Ye", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nazareth", 
            "givenName": "Lynne", 
            "id": "sg:person.01045742732.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045742732.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Qin", 
            "givenName": "Xiang", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Muzny", 
            "givenName": "Donna M.", 
            "id": "sg:person.0706133702.96", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706133702.96"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Margulies", 
            "givenName": "Marcel", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA", 
                "Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Weinstock", 
            "givenName": "George M.", 
            "id": "sg:person.0663624033.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663624033.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA", 
                "Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gibbs", 
            "givenName": "Richard A.", 
            "id": "sg:person.01145707302.20", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145707302.20"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rothberg", 
            "givenName": "Jonathan M.", 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1056/nejmcibr067658", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002834023"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.104.031757", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007468597"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.104.031757", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007468597"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0888-7543(88)90007-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012677419"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature03001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013534924", 
              "https://doi.org/10.1038/nature03001"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature03001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013534924", 
              "https://doi.org/10.1038/nature03001"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0168-9525(02)00045-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016233735"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0168-9525(02)00045-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016233735"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.10212", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017002566"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature03959", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021574562", 
              "https://doi.org/10.1038/nature03959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature03959", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021574562", 
              "https://doi.org/10.1038/nature03959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0010049", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026507968"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0010049", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026507968"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pbio.0050254", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028942453"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2302", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029864299", 
              "https://doi.org/10.1038/nrg2302"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.3059305", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032236123"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.8.3.186", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038920266"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature04072", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042676864", 
              "https://doi.org/10.1038/nature04072"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature04072", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042676864", 
              "https://doi.org/10.1038/nature04072"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkf493", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043756780"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/342727", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043842559"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0030063", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045023132"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0030063", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045023132"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1094-117", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047894637", 
              "https://doi.org/10.1038/ng1094-117"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.8.3.175", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048253030"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.2264004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052415740"
            ], 
            "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/nature05329", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925490", 
              "https://doi.org/10.1038/nature05329"
            ], 
            "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": "https://doi.org/10.1126/science.1149504", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062456540"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2008-04-17", 
        "datePublishedReg": "2008-04-17", 
        "description": "The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels. This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. Comparison of the sequence to the reference genome led to the identification of 3.3 million single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. In addition, we accurately identified small-scale (2-40,000 base pair (bp)) insertion and deletion polymorphism as well as copy number variation resulting in the large-scale gain and loss of chromosomal segments ranging from 26,000 to 1.5 million base pairs. Overall, these results agree well with recent results of sequencing of a single individual by traditional methods. However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system. As a result, we further demonstrate the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing. This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/nature06884", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2699330", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1018957", 
            "issn": [
              "0090-0028", 
              "1476-4687"
            ], 
            "name": "Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "7189", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "452"
          }
        ], 
        "name": "The complete genome of an individual by massively parallel DNA sequencing", 
        "pagination": "872", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "e3199f80649fe64690dc526941e7edc20369e59418a4431a470dfeef105b5698"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "18421352"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "0410462"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/nature06884"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1047672670"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/nature06884", 
          "https://app.dimensions.ai/details/publication/pub.1047672670"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T15:39", 
        "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/v90/0000000001_0000000264/records_8664_00000426.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/nature06884"
      }
    ]
     

    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/nature06884'

    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/nature06884'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nature06884'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nature06884'


     

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

    404 TRIPLES      21 PREDICATES      66 URIs      37 LITERALS      26 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/nature06884 schema:about N2bd3fd01e58a40b59672b725dcb51290
    2 N41d4e490a5434482862fceecfe7ec4f9
    3 N55a4eef8ed594b6e9cf988162ddf47cf
    4 N6386cca7ccd24120a546211ec03befca
    5 N6bf7d4c138bd4cd8b06d396967f1fd81
    6 N6ce9aee33e474b958ba2d0dca8b076f8
    7 N751e451723e646e6810409ff1f68be04
    8 N828d3a94882646618bb375fc975f16b0
    9 N89527ffde7fb4afa9596da7f5d6115be
    10 N8e132606221d4a6a8b263020821ac43d
    11 Ncad25cc063fc4298bc693a58d20fcf43
    12 Nd875af08790c4d9f956ddfc5bc3d8b12
    13 Ne175d010a7184b469d2c5ab04140ff45
    14 Ne57c53f582dd45b3b9dbde702668e968
    15 Ne975f1d8577d4943b25eca87f72c5d8c
    16 Nf6e53df520ed4e7c9f873798b7545137
    17 Nf806041ae35b4f019a1443410335ad32
    18 anzsrc-for:06
    19 anzsrc-for:0604
    20 schema:author Nd84bd360a17147e8981f383e06718919
    21 schema:citation sg:pub.10.1038/nature03001
    22 sg:pub.10.1038/nature03959
    23 sg:pub.10.1038/nature04072
    24 sg:pub.10.1038/nature05329
    25 sg:pub.10.1038/ng1094-117
    26 sg:pub.10.1038/nrg2302
    27 https://doi.org/10.1002/humu.10212
    28 https://doi.org/10.1016/0888-7543(88)90007-9
    29 https://doi.org/10.1016/s0168-9525(02)00045-8
    30 https://doi.org/10.1056/nejmcibr067658
    31 https://doi.org/10.1086/342727
    32 https://doi.org/10.1093/nar/gkf493
    33 https://doi.org/10.1101/gr.2264004
    34 https://doi.org/10.1101/gr.3059305
    35 https://doi.org/10.1101/gr.8.3.175
    36 https://doi.org/10.1101/gr.8.3.186
    37 https://doi.org/10.1126/science.1149504
    38 https://doi.org/10.1371/journal.pbio.0050254
    39 https://doi.org/10.1371/journal.pgen.0010049
    40 https://doi.org/10.1371/journal.pgen.0030063
    41 https://doi.org/10.1534/genetics.104.031757
    42 schema:datePublished 2008-04-17
    43 schema:datePublishedReg 2008-04-17
    44 schema:description The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels. This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. Comparison of the sequence to the reference genome led to the identification of 3.3 million single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. In addition, we accurately identified small-scale (2-40,000 base pair (bp)) insertion and deletion polymorphism as well as copy number variation resulting in the large-scale gain and loss of chromosomal segments ranging from 26,000 to 1.5 million base pairs. Overall, these results agree well with recent results of sequencing of a single individual by traditional methods. However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system. As a result, we further demonstrate the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing. This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'.
    45 schema:genre research_article
    46 schema:inLanguage en
    47 schema:isAccessibleForFree true
    48 schema:isPartOf N35fe7c6ada27488486a42e69ef0ce7e3
    49 N4e85f89fa39b481396100a8eda27fb7c
    50 sg:journal.1018957
    51 schema:name The complete genome of an individual by massively parallel DNA sequencing
    52 schema:pagination 872
    53 schema:productId N3867b7af5e1149b9981a0b3ec8327537
    54 N5bd92cb7d9bd4017bd490ce2b830b748
    55 N810019d7656940479a8367792c3dcdad
    56 Na23790c0fa6f4f10971b45cd4a486b6d
    57 Nddf57dbbd82042c7a58685e3e1963954
    58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047672670
    59 https://doi.org/10.1038/nature06884
    60 schema:sdDatePublished 2019-04-10T15:39
    61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    62 schema:sdPublisher N7ca29eaee5314312b2e7e9219b0ee530
    63 schema:url https://www.nature.com/articles/nature06884
    64 sgo:license sg:explorer/license/
    65 sgo:sdDataset articles
    66 rdf:type schema:ScholarlyArticle
    67 N047e589b73f243a3aa45f668fc81a1c6 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    68 schema:familyName Chen
    69 schema:givenName Lei
    70 rdf:type schema:Person
    71 N04a439da48ea4f48a3740ed3fbeb8d55 rdf:first sg:person.0706133702.96
    72 rdf:rest Ndbca03f556a94104bc1989ef40867ae5
    73 N0b7bc4b08d06493fa098c4fc08fea090 schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    74 rdf:type schema:Organization
    75 N0ce8205e2ba34c719b59f54ec039e24f rdf:first N31dd35c3c52e43edbf4ea469ce34acee
    76 rdf:rest N9e2bfbb43d534acfac7614cb0fd87156
    77 N14d30f776a894e258c70757e5fc2d588 rdf:first sg:person.01045742732.06
    78 rdf:rest N7f96515d15414de7a721e9bcb9a4f97b
    79 N19a6f8519fa04a17b5e2e8077e7c0421 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    80 schema:familyName Lupski
    81 schema:givenName James R.
    82 rdf:type schema:Person
    83 N21add537c06743eaa5adf66d8996d1ff rdf:first Nb213493cce6946aea92b1201eb8940f2
    84 rdf:rest N739bc3f25b564163a6810ef050d1b906
    85 N24ffe8143c244f9dbb5b1c84a6bfaf03 rdf:first sg:person.01101766405.22
    86 rdf:rest N65b78172136f461f9ec1574d49e16305
    87 N268c2cc94ce440e99cf164c07c71769b schema:affiliation N510255cc262d46b9bb9a092d40c9e7ae
    88 schema:familyName Chen
    89 schema:givenName Yi-Ju
    90 rdf:type schema:Person
    91 N2bd3fd01e58a40b59672b725dcb51290 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    92 schema:name Computational Biology
    93 rdf:type schema:DefinedTerm
    94 N31dd35c3c52e43edbf4ea469ce34acee schema:affiliation N95fd57aa0bb744dc9f5ac7a5641f1ca4
    95 schema:familyName Makhijani
    96 schema:givenName Vinod
    97 rdf:type schema:Person
    98 N327bcefc348a4ed78a87e22e44d98b1d schema:affiliation Ne44302c76c194ac183981b1f8a63981a
    99 schema:familyName Roth
    100 schema:givenName G. Thomas
    101 rdf:type schema:Person
    102 N35fe7c6ada27488486a42e69ef0ce7e3 schema:volumeNumber 452
    103 rdf:type schema:PublicationVolume
    104 N36032e02e68c47ee81691ee446251f3b rdf:first sg:person.07732467560.08
    105 rdf:rest Nf20d7691d6e54fbf9deaa6c3a6dff056
    106 N3867b7af5e1149b9981a0b3ec8327537 schema:name pubmed_id
    107 schema:value 18421352
    108 rdf:type schema:PropertyValue
    109 N3fdf85cec8a2422680a0afbca04906fa rdf:first N4ee269a1627c49e4a78d228428b34d0d
    110 rdf:rest Nf3356d8b36e44e1ab479cfe12bb5d3a7
    111 N41d4e490a5434482862fceecfe7ec4f9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Genome, Human
    113 rdf:type schema:DefinedTerm
    114 N425574ed3c2f47b091d8e08c5f896292 schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    115 rdf:type schema:Organization
    116 N47c23cbe0cef43199243cc84ccb73dd1 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    117 schema:familyName Yuan
    118 schema:givenName Ye
    119 rdf:type schema:Person
    120 N4e33e7a270ad4ae184fd718b96288dde schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    121 rdf:type schema:Organization
    122 N4e3f8091949342b9b8680d3c6f5d83ba schema:affiliation N4e33e7a270ad4ae184fd718b96288dde
    123 schema:familyName Margulies
    124 schema:givenName Marcel
    125 rdf:type schema:Person
    126 N4e85f89fa39b481396100a8eda27fb7c schema:issueNumber 7189
    127 rdf:type schema:PublicationIssue
    128 N4e8f9a6acf824c7d9d33698a7ae9b037 rdf:first sg:person.01145707302.20
    129 rdf:rest N62a76d1f4b4b4c0bb465836f9f9d2583
    130 N4ee269a1627c49e4a78d228428b34d0d schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    131 schema:familyName Shen
    132 schema:givenName Yufeng
    133 rdf:type schema:Person
    134 N510255cc262d46b9bb9a092d40c9e7ae schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    135 rdf:type schema:Organization
    136 N55a4eef8ed594b6e9cf988162ddf47cf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    137 schema:name Polymorphism, Single Nucleotide
    138 rdf:type schema:DefinedTerm
    139 N563290fcb7eb40d4a7008bf4f01b6629 rdf:first N47c23cbe0cef43199243cc84ccb73dd1
    140 rdf:rest N14d30f776a894e258c70757e5fc2d588
    141 N5bd92cb7d9bd4017bd490ce2b830b748 schema:name doi
    142 schema:value 10.1038/nature06884
    143 rdf:type schema:PropertyValue
    144 N62a76d1f4b4b4c0bb465836f9f9d2583 rdf:first Nc081d6ab76804006bc0cd002dc1eebeb
    145 rdf:rest rdf:nil
    146 N6386cca7ccd24120a546211ec03befca schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Oligonucleotide Array Sequence Analysis
    148 rdf:type schema:DefinedTerm
    149 N65b78172136f461f9ec1574d49e16305 rdf:first Nfc8fabca54124e1eaf797ffec6246bcd
    150 rdf:rest N36032e02e68c47ee81691ee446251f3b
    151 N68541fbf2e3d46f2bb22647dd8bbd362 rdf:first Nc2dc2add24aa43b5a5c67bb63c4b8b07
    152 rdf:rest N563290fcb7eb40d4a7008bf4f01b6629
    153 N68cb772c47404ffaba1d8233d6e50c71 rdf:first sg:person.01303150226.30
    154 rdf:rest N90b890facc61439abf39c9cb778bf7e6
    155 N69b724f7ce47428392a341b99985cea4 schema:affiliation Nc2002da0162f4b02bb63fdc9b04c144f
    156 schema:familyName Egholm
    157 schema:givenName Michael
    158 rdf:type schema:Person
    159 N6bc56983865c4c7eb201ae93c2e729e1 rdf:first Na3e07e51707f4821801dd9274eb8f703
    160 rdf:rest N21add537c06743eaa5adf66d8996d1ff
    161 N6bf7d4c138bd4cd8b06d396967f1fd81 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    162 schema:name Genotype
    163 rdf:type schema:DefinedTerm
    164 N6ce9aee33e474b958ba2d0dca8b076f8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name Sensitivity and Specificity
    166 rdf:type schema:DefinedTerm
    167 N739bc3f25b564163a6810ef050d1b906 rdf:first N268c2cc94ce440e99cf164c07c71769b
    168 rdf:rest N0ce8205e2ba34c719b59f54ec039e24f
    169 N751e451723e646e6810409ff1f68be04 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Reproducibility of Results
    171 rdf:type schema:DefinedTerm
    172 N7b5ae9b5b9cd46cc9db3314a3661dbf8 rdf:first N69b724f7ce47428392a341b99985cea4
    173 rdf:rest N3fdf85cec8a2422680a0afbca04906fa
    174 N7ca29eaee5314312b2e7e9219b0ee530 schema:name Springer Nature - SN SciGraph project
    175 rdf:type schema:Organization
    176 N7f96515d15414de7a721e9bcb9a4f97b rdf:first N973b486fcf65445fa871615d6578e8c2
    177 rdf:rest N04a439da48ea4f48a3740ed3fbeb8d55
    178 N810019d7656940479a8367792c3dcdad schema:name readcube_id
    179 schema:value e3199f80649fe64690dc526941e7edc20369e59418a4431a470dfeef105b5698
    180 rdf:type schema:PropertyValue
    181 N81a1322ed6de442dab607e897d75ec8f rdf:first sg:person.01357652401.84
    182 rdf:rest N8551c83a033f42f7a0d3e8d227b1f6a2
    183 N828d3a94882646618bb375fc975f16b0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    184 schema:name Individuality
    185 rdf:type schema:DefinedTerm
    186 N8551c83a033f42f7a0d3e8d227b1f6a2 rdf:first Nae607fce06c5442c9337ab83452f8fd8
    187 rdf:rest N68541fbf2e3d46f2bb22647dd8bbd362
    188 N89527ffde7fb4afa9596da7f5d6115be schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    189 schema:name Software
    190 rdf:type schema:DefinedTerm
    191 N8e132606221d4a6a8b263020821ac43d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Sequence Alignment
    193 rdf:type schema:DefinedTerm
    194 N90b890facc61439abf39c9cb778bf7e6 rdf:first sg:person.01102561450.83
    195 rdf:rest N24ffe8143c244f9dbb5b1c84a6bfaf03
    196 N95fd57aa0bb744dc9f5ac7a5641f1ca4 schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    197 rdf:type schema:Organization
    198 N965c9a4f9f2742558358fe916114a57c schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    199 rdf:type schema:Organization
    200 N973b486fcf65445fa871615d6578e8c2 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    201 schema:familyName Qin
    202 schema:givenName Xiang
    203 rdf:type schema:Person
    204 N9e2bfbb43d534acfac7614cb0fd87156 rdf:first N327bcefc348a4ed78a87e22e44d98b1d
    205 rdf:rest N68cb772c47404ffaba1d8233d6e50c71
    206 Na23790c0fa6f4f10971b45cd4a486b6d schema:name nlm_unique_id
    207 schema:value 0410462
    208 rdf:type schema:PropertyValue
    209 Na3e07e51707f4821801dd9274eb8f703 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    210 schema:familyName McGuire
    211 schema:givenName Amy
    212 rdf:type schema:Person
    213 Naadf5308ffcf487a879ffbd8dcd84f9f rdf:first sg:person.01055221101.48
    214 rdf:rest N7b5ae9b5b9cd46cc9db3314a3661dbf8
    215 Nae607fce06c5442c9337ab83452f8fd8 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    216 schema:familyName Song
    217 schema:givenName Xing-zhi
    218 rdf:type schema:Person
    219 Nb213493cce6946aea92b1201eb8940f2 schema:affiliation Neb0c0dc882994363879b4f07bec21ab3
    220 schema:familyName He
    221 schema:givenName Wen
    222 rdf:type schema:Person
    223 Nbda6732508034c16ae6ae4457d4ea929 schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    224 rdf:type schema:Organization
    225 Nc081d6ab76804006bc0cd002dc1eebeb schema:affiliation Nd2b5860ce35140abb7cb04aec8e1c666
    226 schema:familyName Rothberg
    227 schema:givenName Jonathan M.
    228 rdf:type schema:Person
    229 Nc2002da0162f4b02bb63fdc9b04c144f schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    230 rdf:type schema:Organization
    231 Nc2dc2add24aa43b5a5c67bb63c4b8b07 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    232 schema:familyName Liu
    233 schema:givenName Yue
    234 rdf:type schema:Person
    235 Ncad25cc063fc4298bc693a58d20fcf43 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    236 schema:name Genetic Variation
    237 rdf:type schema:DefinedTerm
    238 Nd2b5860ce35140abb7cb04aec8e1c666 schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    239 rdf:type schema:Organization
    240 Nd84bd360a17147e8981f383e06718919 rdf:first sg:person.01007105701.81
    241 rdf:rest Naadf5308ffcf487a879ffbd8dcd84f9f
    242 Nd875af08790c4d9f956ddfc5bc3d8b12 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    243 schema:name Sequence Analysis, DNA
    244 rdf:type schema:DefinedTerm
    245 Ndbca03f556a94104bc1989ef40867ae5 rdf:first N4e3f8091949342b9b8680d3c6f5d83ba
    246 rdf:rest Ne3ef70638df84fb397bf5334f0e09193
    247 Nddf57dbbd82042c7a58685e3e1963954 schema:name dimensions_id
    248 schema:value pub.1047672670
    249 rdf:type schema:PropertyValue
    250 Ne1417d7e957349afa24119d1671975ae schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    251 rdf:type schema:Organization
    252 Ne175d010a7184b469d2c5ab04140ff45 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    253 schema:name Genomics
    254 rdf:type schema:DefinedTerm
    255 Ne3ef70638df84fb397bf5334f0e09193 rdf:first sg:person.0663624033.23
    256 rdf:rest N4e8f9a6acf824c7d9d33698a7ae9b037
    257 Ne44302c76c194ac183981b1f8a63981a schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    258 rdf:type schema:Organization
    259 Ne57c53f582dd45b3b9dbde702668e968 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    260 schema:name Male
    261 rdf:type schema:DefinedTerm
    262 Ne975f1d8577d4943b25eca87f72c5d8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    263 schema:name Alleles
    264 rdf:type schema:DefinedTerm
    265 Neb0c0dc882994363879b4f07bec21ab3 schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    266 rdf:type schema:Organization
    267 Nf20d7691d6e54fbf9deaa6c3a6dff056 rdf:first N19a6f8519fa04a17b5e2e8077e7c0421
    268 rdf:rest N81a1322ed6de442dab607e897d75ec8f
    269 Nf3356d8b36e44e1ab479cfe12bb5d3a7 rdf:first N047e589b73f243a3aa45f668fc81a1c6
    270 rdf:rest N6bc56983865c4c7eb201ae93c2e729e1
    271 Nf6e53df520ed4e7c9f873798b7545137 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    272 schema:name Humans
    273 rdf:type schema:DefinedTerm
    274 Nf806041ae35b4f019a1443410335ad32 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    275 schema:name Genetic Predisposition to Disease
    276 rdf:type schema:DefinedTerm
    277 Nfc8fabca54124e1eaf797ffec6246bcd schema:affiliation Ne1417d7e957349afa24119d1671975ae
    278 schema:familyName Turcotte
    279 schema:givenName Cynthia L.
    280 rdf:type schema:Person
    281 Nfda9bd7a686044f29bb6df311f0a1a4f schema:name 454 Life Sciences, Roche Diagnostics, 20 Commercial Street, Bradford, Connecticut 06405, USA
    282 rdf:type schema:Organization
    283 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    284 schema:name Biological Sciences
    285 rdf:type schema:DefinedTerm
    286 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    287 schema:name Genetics
    288 rdf:type schema:DefinedTerm
    289 sg:grant.2699330 http://pending.schema.org/fundedItem sg:pub.10.1038/nature06884
    290 rdf:type schema:MonetaryGrant
    291 sg:journal.1018957 schema:issn 0090-0028
    292 1476-4687
    293 schema:name Nature
    294 rdf:type schema:Periodical
    295 sg:person.01007105701.81 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    296 schema:familyName Wheeler
    297 schema:givenName David A.
    298 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007105701.81
    299 rdf:type schema:Person
    300 sg:person.01045742732.06 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    301 schema:familyName Nazareth
    302 schema:givenName Lynne
    303 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045742732.06
    304 rdf:type schema:Person
    305 sg:person.01055221101.48 schema:affiliation N425574ed3c2f47b091d8e08c5f896292
    306 schema:familyName Srinivasan
    307 schema:givenName Maithreyan
    308 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055221101.48
    309 rdf:type schema:Person
    310 sg:person.01101766405.22 schema:affiliation N965c9a4f9f2742558358fe916114a57c
    311 schema:familyName Niazi
    312 schema:givenName Faheem
    313 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101766405.22
    314 rdf:type schema:Person
    315 sg:person.01102561450.83 schema:affiliation Nfda9bd7a686044f29bb6df311f0a1a4f
    316 schema:familyName Tartaro
    317 schema:givenName Karrie
    318 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102561450.83
    319 rdf:type schema:Person
    320 sg:person.01145707302.20 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    321 schema:familyName Gibbs
    322 schema:givenName Richard A.
    323 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145707302.20
    324 rdf:type schema:Person
    325 sg:person.01303150226.30 schema:affiliation N0b7bc4b08d06493fa098c4fc08fea090
    326 schema:familyName Gomes
    327 schema:givenName Xavier
    328 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303150226.30
    329 rdf:type schema:Person
    330 sg:person.01357652401.84 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    331 schema:familyName Chinault
    332 schema:givenName Craig
    333 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357652401.84
    334 rdf:type schema:Person
    335 sg:person.0663624033.23 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    336 schema:familyName Weinstock
    337 schema:givenName George M.
    338 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663624033.23
    339 rdf:type schema:Person
    340 sg:person.0706133702.96 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    341 schema:familyName Muzny
    342 schema:givenName Donna M.
    343 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706133702.96
    344 rdf:type schema:Person
    345 sg:person.07732467560.08 schema:affiliation Nbda6732508034c16ae6ae4457d4ea929
    346 schema:familyName Irzyk
    347 schema:givenName Gerard P.
    348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07732467560.08
    349 rdf:type schema:Person
    350 sg:pub.10.1038/nature03001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013534924
    351 https://doi.org/10.1038/nature03001
    352 rdf:type schema:CreativeWork
    353 sg:pub.10.1038/nature03959 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021574562
    354 https://doi.org/10.1038/nature03959
    355 rdf:type schema:CreativeWork
    356 sg:pub.10.1038/nature04072 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042676864
    357 https://doi.org/10.1038/nature04072
    358 rdf:type schema:CreativeWork
    359 sg:pub.10.1038/nature05329 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052925490
    360 https://doi.org/10.1038/nature05329
    361 rdf:type schema:CreativeWork
    362 sg:pub.10.1038/ng1094-117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047894637
    363 https://doi.org/10.1038/ng1094-117
    364 rdf:type schema:CreativeWork
    365 sg:pub.10.1038/nrg2302 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029864299
    366 https://doi.org/10.1038/nrg2302
    367 rdf:type schema:CreativeWork
    368 https://doi.org/10.1002/humu.10212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017002566
    369 rdf:type schema:CreativeWork
    370 https://doi.org/10.1016/0888-7543(88)90007-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012677419
    371 rdf:type schema:CreativeWork
    372 https://doi.org/10.1016/s0168-9525(02)00045-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016233735
    373 rdf:type schema:CreativeWork
    374 https://doi.org/10.1056/nejmcibr067658 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002834023
    375 rdf:type schema:CreativeWork
    376 https://doi.org/10.1086/342727 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043842559
    377 rdf:type schema:CreativeWork
    378 https://doi.org/10.1093/nar/gkf493 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043756780
    379 rdf:type schema:CreativeWork
    380 https://doi.org/10.1101/gr.2264004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052415740
    381 rdf:type schema:CreativeWork
    382 https://doi.org/10.1101/gr.3059305 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032236123
    383 rdf:type schema:CreativeWork
    384 https://doi.org/10.1101/gr.8.3.175 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048253030
    385 rdf:type schema:CreativeWork
    386 https://doi.org/10.1101/gr.8.3.186 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038920266
    387 rdf:type schema:CreativeWork
    388 https://doi.org/10.1126/science.1149504 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062456540
    389 rdf:type schema:CreativeWork
    390 https://doi.org/10.1371/journal.pbio.0050254 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028942453
    391 rdf:type schema:CreativeWork
    392 https://doi.org/10.1371/journal.pgen.0010049 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026507968
    393 rdf:type schema:CreativeWork
    394 https://doi.org/10.1371/journal.pgen.0030063 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045023132
    395 rdf:type schema:CreativeWork
    396 https://doi.org/10.1534/genetics.104.031757 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007468597
    397 rdf:type schema:CreativeWork
    398 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
    399 schema:name Center for Ethics and Health Policy, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA
    400 Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA
    401 Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston Texas 77030, USA
    402 Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    403 Texas Children’s Hospital, Texas Medical Center, Houston, Texas 77030, USA
    404 rdf:type schema:Organization
     




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


    ...