Linkage disequilibrium in the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-05

AUTHORS

David E. Reich, Michele Cargill, Stacey Bolk, James Ireland, Pardis C. Sabeti, Daniel J. Richter, Thomas Lavery, Rose Kouyoumjian, Shelli F. Farhadian, Ryk Ward, Eric S. Lander

ABSTRACT

With the availability of a dense genome-wide map of single nucleotide polymorphisms (SNPs)1, a central issue in human genetics is whether it is now possible to use linkage disequilibrium (LD) to map genes that cause disease. LD refers to correlations among neighbouring alleles, reflecting ‘haplotypes’ descended from single, ancestral chromosomes. The size of LD blocks has been the subject of considerable debate. Computer simulations2 and empirical data3 have suggested that LD extends only a few kilobases (kb) around common SNPs, whereas other data have suggested that it can extend much further, in some cases greater than 100 kb4,5,6. It has been difficult to obtain a systematic picture of LD because past studies have been based on only a few (1–3) loci and different populations. Here, we report a large-scale experiment using a uniform protocol to examine 19 randomly selected genomic regions. LD in a United States population of north-European descent typically extends 60 kb from common alleles, implying that LD mapping is likely to be practical in this population. By contrast, LD in a Nigerian population extends markedly less far. The results illuminate human history, suggesting that LD in northern Europeans is shaped by a marked demographic event about 27,000–53,000 years ago. More... »

PAGES

199-204

Journal

TITLE

Nature

ISSUE

6834

VOLUME

411

Related Patents

  • Mass Spectrometry Assay For Thiopurine-S-Methyl Transferase Activity And Products Generated Thereby
  • Mass Spectrometry Assay For Thiopurine-S-Methyl Transferase Activity And Products Generated Thereby
  • Systems And Methods For Interpreting A Human Genome Using A Synthetic Reference Sequence
  • Susceptibility Variants For Peripheral Arterial Disease And Abdominal Aortic Aneurysm
  • Methods For Placing, Accepting, And Filling Orders For Products And Services
  • Methods Of Analysis Of Polymorphisms And Uses Thereof
  • Method To Confirm Variants In Ngs Panel Testing By Snp Genotyping
  • Methods And Compositions For Producing Brachytic Corn Plants
  • Genes Linking Several Complications Of Type-2 Diabetes (T2d)
  • Methods For Producing Corn Plants With Downy Mildew Resistance And Compositions Thereof
  • Methods For Producing Canola Plants With Clubroot Resistance And Compositions Thereof
  • Assessment Of Risk For Colorectal Cancer
  • Methods And Compositions For The Assessment Of Drug Response
  • Methods For Genomic Analysis
  • Methods And Compositions For Assessment Of Pulmonary Function And Disorders
  • Method And Apparatus For Discovering Patterns In Binary Or Categorical Data
  • Genetic Markers Associated With Risk Of Diabetes Mellitus
  • Haplotype Structures Of Chromosome 21
  • Genetic Variants On Chr 5p12 And 10q26 As Markers For Use In Breast Cancer Risk Assessment, Diagnosis, Prognosis And Treatment
  • Genetic Markers For Risk Management Of Atrial Fibrillation And Stroke
  • Method And Apparatus For Discovering Patterns In Binary Or Categorical Data
  • Methods And Compositions For Producing Corn Plants With Resistance To Late Wilt
  • Methods For Producing Cotton Plants With Enhanced Drought Tolerance And Compositions Thereof
  • Genetic Variants Contributing To Risk Of Prostate Cancer
  • Assessment Of Risk For Colorectal Cancer
  • Methods For Producing Corn Plants With Northern Leaf Blight Resistance And Compositions Thereof
  • Method And System For The Use Of Biomarkers For Regulatory Dysfunction In Disease
  • Methylation Markers For Diagnosing Hepatocellular Carcinoma And Lung Cancer
  • Genetic Variants For Breast Cancer Risk Assessment
  • Haplotype Determination
  • Susceptibility Variants For Lung Cancer
  • Use Of Polymorphisms In Human Oatp-C Associated With An Effect On Statin Pharmacokinetics In Humans In Statin Therapy
  • Genetic Susceptibility Variants Associated With Cardiovascular Disease
  • Genetic Markers For Risk Management Of Atrial Fibrillation, Atrial Flutter, And Stroke
  • Assessment Of Risk For Colorectal Cancer
  • Methods For Placing, Accepting, And Filling Orders For Products And Services
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/35075590

    DOI

    http://dx.doi.org/10.1038/35075590

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1049252964

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/11346797


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Alleles", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Bias", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosome Mapping", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Computer Simulation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Continental Population Groups", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Europe", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Founder Effect", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Diseases, Inborn", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Haplotypes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heterozygote", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Linkage Disequilibrium", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Models, Genetic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nigeria", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phylogeny", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Recombination, Genetic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Reproducibility of Results", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Selection, Genetic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Time Factors", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "United States", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Reich", 
            "givenName": "David E.", 
            "id": "sg:person.0627545135.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627545135.27"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Celera Genomics, 45 West Gude Drive, 20850, Rockville, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.418124.a", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
                "Celera Genomics, 45 West Gude Drive, 20850, Rockville, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cargill", 
            "givenName": "Michele", 
            "id": "sg:person.012566322067.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012566322067.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bolk", 
            "givenName": "Stacey", 
            "id": "sg:person.01222401247.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222401247.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ireland", 
            "givenName": "James", 
            "id": "sg:person.0675376676.38", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675376676.38"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Biological Anthropology, University of Oxford, OX2 6QS, Oxford, UK", 
              "id": "http://www.grid.ac/institutes/grid.4991.5", 
              "name": [
                "Institute of Biological Anthropology, University of Oxford, OX2 6QS, Oxford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sabeti", 
            "givenName": "Pardis C.", 
            "id": "sg:person.0772575234.33", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772575234.33"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Richter", 
            "givenName": "Daniel J.", 
            "id": "sg:person.0651730663.65", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651730663.65"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lavery", 
            "givenName": "Thomas", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kouyoumjian", 
            "givenName": "Rose", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.270301.7", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Farhadian", 
            "givenName": "Shelli F.", 
            "id": "sg:person.01065241323.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065241323.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Biological Anthropology, University of Oxford, OX2 6QS, Oxford, UK", 
              "id": "http://www.grid.ac/institutes/grid.4991.5", 
              "name": [
                "Institute of Biological Anthropology, University of Oxford, OX2 6QS, Oxford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ward", 
            "givenName": "Ryk", 
            "id": "sg:person.012656334362.40", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012656334362.40"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biology, MIT, 02139, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.116068.8", 
              "name": [
                "Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA", 
                "Department of Biology, MIT, 02139, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lander", 
            "givenName": "Eric S.", 
            "id": "sg:person.01260666165.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260666165.62"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/35057062", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042854081", 
              "https://doi.org/10.1038/35057062"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/10290", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008973203", 
              "https://doi.org/10.1038/10290"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35047064", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010411503", 
              "https://doi.org/10.1038/35047064"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/9642", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052869833", 
              "https://doi.org/10.1038/9642"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/77091", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022922830", 
              "https://doi.org/10.1038/77091"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/74215", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001732089", 
              "https://doi.org/10.1038/74215"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35057149", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046153445", 
              "https://doi.org/10.1038/35057149"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/77100", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033638507", 
              "https://doi.org/10.1038/77100"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/4328", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009661877", 
              "https://doi.org/10.1038/4328"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/79839", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002504411", 
              "https://doi.org/10.1038/79839"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2001-05", 
        "datePublishedReg": "2001-05-01", 
        "description": "With the availability of a dense genome-wide map of single nucleotide polymorphisms (SNPs)1, a central issue in human genetics is whether it is now possible to use linkage disequilibrium (LD) to map genes that cause disease. LD refers to correlations among neighbouring alleles, reflecting \u2018haplotypes\u2019 descended from single, ancestral chromosomes. The size of LD blocks has been the subject of considerable debate. Computer simulations2 and empirical data3 have suggested that LD extends only a few kilobases (kb) around common SNPs, whereas other data have suggested that it can extend much further, in some cases greater than 100 kb4,5,6. It has been difficult to obtain a systematic picture of LD because past studies have been based on only a few (1\u20133) loci and different populations. Here, we report a large-scale experiment using a uniform protocol to examine 19 randomly selected genomic regions. LD in a United States population of north-European descent typically extends 60 kb from common alleles, implying that LD mapping is likely to be practical in this population. By contrast, LD in a Nigerian population extends markedly less far. The results illuminate human history, suggesting that LD in northern Europeans is shaped by a marked demographic event about 27,000\u201353,000 years ago.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/35075590", 
        "inLanguage": "en", 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1018957", 
            "issn": [
              "0028-0836", 
              "1476-4687"
            ], 
            "name": "Nature", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "6834", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "411"
          }
        ], 
        "keywords": [
          "linkage disequilibrium", 
          "genome-wide maps", 
          "ancestral chromosomes", 
          "genomic regions", 
          "human genome", 
          "demographic events", 
          "LD mapping", 
          "single nucleotide polymorphisms", 
          "human genetics", 
          "common SNPs", 
          "LD blocks", 
          "nucleotide polymorphisms", 
          "common alleles", 
          "different populations", 
          "alleles", 
          "disequilibrium", 
          "genome", 
          "large-scale experiments", 
          "kilobases", 
          "chromosomes", 
          "genes", 
          "loci", 
          "kb", 
          "genetics", 
          "population", 
          "Northern Europeans", 
          "SNPs", 
          "haplotypes", 
          "polymorphism", 
          "human history", 
          "availability", 
          "systematic picture", 
          "region", 
          "mapping", 
          "contrast", 
          "central issue", 
          "events", 
          "past studies", 
          "considerable debate", 
          "maps", 
          "disease", 
          "size", 
          "Europeans", 
          "descent", 
          "experiments", 
          "study", 
          "data", 
          "Nigerian population", 
          "results", 
          "correlation", 
          "protocol", 
          "history", 
          "block", 
          "United States population", 
          "years", 
          "States population", 
          "picture", 
          "uniform protocol", 
          "debate", 
          "cases", 
          "issues", 
          "subjects", 
          "data3", 
          "dense genome-wide map", 
          "neighbouring alleles", 
          "Computer simulations2", 
          "simulations2", 
          "empirical data3", 
          "north-European descent", 
          "marked demographic event"
        ], 
        "name": "Linkage disequilibrium in the human genome", 
        "pagination": "199-204", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1049252964"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/35075590"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "11346797"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/35075590", 
          "https://app.dimensions.ai/details/publication/pub.1049252964"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2021-11-01T18:05", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20211101/entities/gbq_results/article/article_347.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/35075590"
      }
    ]
     

    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.10.1038/35075590'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/35075590'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/35075590'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/35075590'


     

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

    339 TRIPLES      22 PREDICATES      129 URIs      111 LITERALS      29 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/35075590 schema:about N07cd1fd27c904639928658fbbd97444a
    2 N09512fdb41c6474fac2a515694e84d22
    3 N1bf047f6028b4fcf804f236169b82a26
    4 N2b8b4f7394014393b3304139e3ed8c75
    5 N3d35149a64db4cceaebdd1f71b1c867e
    6 N3dba0a42acfd4d178c7574e09f0969e6
    7 N40b71dc2e191451f8e0904d6d4dca5b4
    8 N4136ee1edd8f4d309402797703dd5e6a
    9 N4a7c028a2baf4bdfa9f244ba6984d370
    10 N4b6b1d0346714cc3ad37aac59d0969bc
    11 N7410e69c50114ccaac9c990d95d8912a
    12 N831b5cd691394d83ac00779a7dfd3642
    13 N8969c2b7984b4d95b45bce81f507570a
    14 Nb7d2392109c246378f2cf5613af48f34
    15 Nbe9b2a79515144c79f9f43931b2c1474
    16 Nc589a8394481442da61066dbe9e5cfff
    17 Nd1c04ee033c849d189a04bb4cdd91323
    18 Nd430e984b878484eb9cebc658795a6e2
    19 Nd5d1e6442b104568acd8e3d8cb3f0072
    20 Ne720febdc81a47b1bbe617634d912b78
    21 Nea60cab89ea94936a37e904df23056f3
    22 Nff6e08677bd3426da4d2190e032307c2
    23 anzsrc-for:06
    24 anzsrc-for:0604
    25 schema:author N994cd60e40c5441e999ee501911b0e95
    26 schema:citation sg:pub.10.1038/10290
    27 sg:pub.10.1038/35047064
    28 sg:pub.10.1038/35057062
    29 sg:pub.10.1038/35057149
    30 sg:pub.10.1038/4328
    31 sg:pub.10.1038/74215
    32 sg:pub.10.1038/77091
    33 sg:pub.10.1038/77100
    34 sg:pub.10.1038/79839
    35 sg:pub.10.1038/9642
    36 schema:datePublished 2001-05
    37 schema:datePublishedReg 2001-05-01
    38 schema:description With the availability of a dense genome-wide map of single nucleotide polymorphisms (SNPs)1, a central issue in human genetics is whether it is now possible to use linkage disequilibrium (LD) to map genes that cause disease. LD refers to correlations among neighbouring alleles, reflecting ‘haplotypes’ descended from single, ancestral chromosomes. The size of LD blocks has been the subject of considerable debate. Computer simulations2 and empirical data3 have suggested that LD extends only a few kilobases (kb) around common SNPs, whereas other data have suggested that it can extend much further, in some cases greater than 100 kb4,5,6. It has been difficult to obtain a systematic picture of LD because past studies have been based on only a few (1–3) loci and different populations. Here, we report a large-scale experiment using a uniform protocol to examine 19 randomly selected genomic regions. LD in a United States population of north-European descent typically extends 60 kb from common alleles, implying that LD mapping is likely to be practical in this population. By contrast, LD in a Nigerian population extends markedly less far. The results illuminate human history, suggesting that LD in northern Europeans is shaped by a marked demographic event about 27,000–53,000 years ago.
    39 schema:genre article
    40 schema:inLanguage en
    41 schema:isAccessibleForFree false
    42 schema:isPartOf N45d6724a925147048303e56d215ddea1
    43 Ndc88f4eab4ac443ba76703174ece36aa
    44 sg:journal.1018957
    45 schema:keywords Computer simulations2
    46 Europeans
    47 LD blocks
    48 LD mapping
    49 Nigerian population
    50 Northern Europeans
    51 SNPs
    52 States population
    53 United States population
    54 alleles
    55 ancestral chromosomes
    56 availability
    57 block
    58 cases
    59 central issue
    60 chromosomes
    61 common SNPs
    62 common alleles
    63 considerable debate
    64 contrast
    65 correlation
    66 data
    67 data3
    68 debate
    69 demographic events
    70 dense genome-wide map
    71 descent
    72 different populations
    73 disease
    74 disequilibrium
    75 empirical data3
    76 events
    77 experiments
    78 genes
    79 genetics
    80 genome
    81 genome-wide maps
    82 genomic regions
    83 haplotypes
    84 history
    85 human genetics
    86 human genome
    87 human history
    88 issues
    89 kb
    90 kilobases
    91 large-scale experiments
    92 linkage disequilibrium
    93 loci
    94 mapping
    95 maps
    96 marked demographic event
    97 neighbouring alleles
    98 north-European descent
    99 nucleotide polymorphisms
    100 past studies
    101 picture
    102 polymorphism
    103 population
    104 protocol
    105 region
    106 results
    107 simulations2
    108 single nucleotide polymorphisms
    109 size
    110 study
    111 subjects
    112 systematic picture
    113 uniform protocol
    114 years
    115 schema:name Linkage disequilibrium in the human genome
    116 schema:pagination 199-204
    117 schema:productId N307df86d5a524a23abbaa552331d6e51
    118 N5dc946491c904f808638437d5930544b
    119 N6009a12e5abd4dbf8907f77d0bb7db13
    120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049252964
    121 https://doi.org/10.1038/35075590
    122 schema:sdDatePublished 2021-11-01T18:05
    123 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    124 schema:sdPublisher Na6e29579386f45899b7096dd436c0ac1
    125 schema:url https://doi.org/10.1038/35075590
    126 sgo:license sg:explorer/license/
    127 sgo:sdDataset articles
    128 rdf:type schema:ScholarlyArticle
    129 N07cd1fd27c904639928658fbbd97444a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Genetic Diseases, Inborn
    131 rdf:type schema:DefinedTerm
    132 N09512fdb41c6474fac2a515694e84d22 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    133 schema:name Computer Simulation
    134 rdf:type schema:DefinedTerm
    135 N1bf047f6028b4fcf804f236169b82a26 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    136 schema:name Humans
    137 rdf:type schema:DefinedTerm
    138 N2b8b4f7394014393b3304139e3ed8c75 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    139 schema:name Nigeria
    140 rdf:type schema:DefinedTerm
    141 N307df86d5a524a23abbaa552331d6e51 schema:name pubmed_id
    142 schema:value 11346797
    143 rdf:type schema:PropertyValue
    144 N364ca94569a2422194726f786a9baf74 rdf:first sg:person.0772575234.33
    145 rdf:rest N4f7b2f5af38245f0a81671d755b424d1
    146 N3d35149a64db4cceaebdd1f71b1c867e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Europe
    148 rdf:type schema:DefinedTerm
    149 N3dba0a42acfd4d178c7574e09f0969e6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Founder Effect
    151 rdf:type schema:DefinedTerm
    152 N40b71dc2e191451f8e0904d6d4dca5b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Reproducibility of Results
    154 rdf:type schema:DefinedTerm
    155 N4136ee1edd8f4d309402797703dd5e6a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    156 schema:name Haplotypes
    157 rdf:type schema:DefinedTerm
    158 N45d6724a925147048303e56d215ddea1 schema:volumeNumber 411
    159 rdf:type schema:PublicationVolume
    160 N4a7c028a2baf4bdfa9f244ba6984d370 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    161 schema:name Bias
    162 rdf:type schema:DefinedTerm
    163 N4b6b1d0346714cc3ad37aac59d0969bc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    164 schema:name Polymorphism, Single Nucleotide
    165 rdf:type schema:DefinedTerm
    166 N4cbb2fd7e45d4a5b92a936a5f5fbec80 schema:affiliation grid-institutes:grid.270301.7
    167 schema:familyName Kouyoumjian
    168 schema:givenName Rose
    169 rdf:type schema:Person
    170 N4f7b2f5af38245f0a81671d755b424d1 rdf:first sg:person.0651730663.65
    171 rdf:rest N51322ec26cf747649baffbe9f436a828
    172 N51322ec26cf747649baffbe9f436a828 rdf:first N7ba7e71c41c1420fa21c622a098c80ab
    173 rdf:rest Nf26e21c4999e44538820d1adf60b9b6c
    174 N5dc946491c904f808638437d5930544b schema:name dimensions_id
    175 schema:value pub.1049252964
    176 rdf:type schema:PropertyValue
    177 N5e033593632d41fb830e7c97f14e7bfd rdf:first sg:person.01065241323.18
    178 rdf:rest N75701643c7f3429da904b9141935a6d7
    179 N6009a12e5abd4dbf8907f77d0bb7db13 schema:name doi
    180 schema:value 10.1038/35075590
    181 rdf:type schema:PropertyValue
    182 N7410e69c50114ccaac9c990d95d8912a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name Selection, Genetic
    184 rdf:type schema:DefinedTerm
    185 N75701643c7f3429da904b9141935a6d7 rdf:first sg:person.012656334362.40
    186 rdf:rest Nd6a711108cd644e1ab68a504c22cf610
    187 N7ba7e71c41c1420fa21c622a098c80ab schema:affiliation grid-institutes:grid.270301.7
    188 schema:familyName Lavery
    189 schema:givenName Thomas
    190 rdf:type schema:Person
    191 N831b5cd691394d83ac00779a7dfd3642 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Alleles
    193 rdf:type schema:DefinedTerm
    194 N8969c2b7984b4d95b45bce81f507570a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    195 schema:name Time Factors
    196 rdf:type schema:DefinedTerm
    197 N994cd60e40c5441e999ee501911b0e95 rdf:first sg:person.0627545135.27
    198 rdf:rest Nd2c5c3200c5a45be8b78878ed23c85c0
    199 Na6e29579386f45899b7096dd436c0ac1 schema:name Springer Nature - SN SciGraph project
    200 rdf:type schema:Organization
    201 Nb07360c7fa2248e1a1af9b534f228bc4 rdf:first sg:person.01222401247.24
    202 rdf:rest Nfbf451f0e94c49ff954d50480453844e
    203 Nb7d2392109c246378f2cf5613af48f34 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    204 schema:name Heterozygote
    205 rdf:type schema:DefinedTerm
    206 Nbe9b2a79515144c79f9f43931b2c1474 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    207 schema:name United States
    208 rdf:type schema:DefinedTerm
    209 Nc589a8394481442da61066dbe9e5cfff schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    210 schema:name Linkage Disequilibrium
    211 rdf:type schema:DefinedTerm
    212 Nd1c04ee033c849d189a04bb4cdd91323 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    213 schema:name Models, Genetic
    214 rdf:type schema:DefinedTerm
    215 Nd2c5c3200c5a45be8b78878ed23c85c0 rdf:first sg:person.012566322067.11
    216 rdf:rest Nb07360c7fa2248e1a1af9b534f228bc4
    217 Nd430e984b878484eb9cebc658795a6e2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    218 schema:name Genome, Human
    219 rdf:type schema:DefinedTerm
    220 Nd5d1e6442b104568acd8e3d8cb3f0072 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    221 schema:name Chromosome Mapping
    222 rdf:type schema:DefinedTerm
    223 Nd6a711108cd644e1ab68a504c22cf610 rdf:first sg:person.01260666165.62
    224 rdf:rest rdf:nil
    225 Ndc88f4eab4ac443ba76703174ece36aa schema:issueNumber 6834
    226 rdf:type schema:PublicationIssue
    227 Ne720febdc81a47b1bbe617634d912b78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    228 schema:name Recombination, Genetic
    229 rdf:type schema:DefinedTerm
    230 Nea60cab89ea94936a37e904df23056f3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    231 schema:name Continental Population Groups
    232 rdf:type schema:DefinedTerm
    233 Nf26e21c4999e44538820d1adf60b9b6c rdf:first N4cbb2fd7e45d4a5b92a936a5f5fbec80
    234 rdf:rest N5e033593632d41fb830e7c97f14e7bfd
    235 Nfbf451f0e94c49ff954d50480453844e rdf:first sg:person.0675376676.38
    236 rdf:rest N364ca94569a2422194726f786a9baf74
    237 Nff6e08677bd3426da4d2190e032307c2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    238 schema:name Phylogeny
    239 rdf:type schema:DefinedTerm
    240 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    241 schema:name Biological Sciences
    242 rdf:type schema:DefinedTerm
    243 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    244 schema:name Genetics
    245 rdf:type schema:DefinedTerm
    246 sg:journal.1018957 schema:issn 0028-0836
    247 1476-4687
    248 schema:name Nature
    249 schema:publisher Springer Nature
    250 rdf:type schema:Periodical
    251 sg:person.01065241323.18 schema:affiliation grid-institutes:grid.270301.7
    252 schema:familyName Farhadian
    253 schema:givenName Shelli F.
    254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065241323.18
    255 rdf:type schema:Person
    256 sg:person.01222401247.24 schema:affiliation grid-institutes:grid.270301.7
    257 schema:familyName Bolk
    258 schema:givenName Stacey
    259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222401247.24
    260 rdf:type schema:Person
    261 sg:person.012566322067.11 schema:affiliation grid-institutes:grid.418124.a
    262 schema:familyName Cargill
    263 schema:givenName Michele
    264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012566322067.11
    265 rdf:type schema:Person
    266 sg:person.01260666165.62 schema:affiliation grid-institutes:grid.116068.8
    267 schema:familyName Lander
    268 schema:givenName Eric S.
    269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260666165.62
    270 rdf:type schema:Person
    271 sg:person.012656334362.40 schema:affiliation grid-institutes:grid.4991.5
    272 schema:familyName Ward
    273 schema:givenName Ryk
    274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012656334362.40
    275 rdf:type schema:Person
    276 sg:person.0627545135.27 schema:affiliation grid-institutes:grid.270301.7
    277 schema:familyName Reich
    278 schema:givenName David E.
    279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627545135.27
    280 rdf:type schema:Person
    281 sg:person.0651730663.65 schema:affiliation grid-institutes:grid.270301.7
    282 schema:familyName Richter
    283 schema:givenName Daniel J.
    284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651730663.65
    285 rdf:type schema:Person
    286 sg:person.0675376676.38 schema:affiliation grid-institutes:grid.270301.7
    287 schema:familyName Ireland
    288 schema:givenName James
    289 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675376676.38
    290 rdf:type schema:Person
    291 sg:person.0772575234.33 schema:affiliation grid-institutes:grid.4991.5
    292 schema:familyName Sabeti
    293 schema:givenName Pardis C.
    294 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772575234.33
    295 rdf:type schema:Person
    296 sg:pub.10.1038/10290 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008973203
    297 https://doi.org/10.1038/10290
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1038/35047064 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010411503
    300 https://doi.org/10.1038/35047064
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1038/35057062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042854081
    303 https://doi.org/10.1038/35057062
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1038/35057149 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046153445
    306 https://doi.org/10.1038/35057149
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1038/4328 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009661877
    309 https://doi.org/10.1038/4328
    310 rdf:type schema:CreativeWork
    311 sg:pub.10.1038/74215 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001732089
    312 https://doi.org/10.1038/74215
    313 rdf:type schema:CreativeWork
    314 sg:pub.10.1038/77091 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022922830
    315 https://doi.org/10.1038/77091
    316 rdf:type schema:CreativeWork
    317 sg:pub.10.1038/77100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033638507
    318 https://doi.org/10.1038/77100
    319 rdf:type schema:CreativeWork
    320 sg:pub.10.1038/79839 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002504411
    321 https://doi.org/10.1038/79839
    322 rdf:type schema:CreativeWork
    323 sg:pub.10.1038/9642 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052869833
    324 https://doi.org/10.1038/9642
    325 rdf:type schema:CreativeWork
    326 grid-institutes:grid.116068.8 schema:alternateName Department of Biology, MIT, 02139, Cambridge, Massachusetts, USA
    327 schema:name Department of Biology, MIT, 02139, Cambridge, Massachusetts, USA
    328 Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA
    329 rdf:type schema:Organization
    330 grid-institutes:grid.270301.7 schema:alternateName Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA
    331 schema:name Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA
    332 rdf:type schema:Organization
    333 grid-institutes:grid.418124.a schema:alternateName Celera Genomics, 45 West Gude Drive, 20850, Rockville, Maryland, USA
    334 schema:name Celera Genomics, 45 West Gude Drive, 20850, Rockville, Maryland, USA
    335 Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, 02142, Cambridge, Massachusetts, USA
    336 rdf:type schema:Organization
    337 grid-institutes:grid.4991.5 schema:alternateName Institute of Biological Anthropology, University of Oxford, OX2 6QS, Oxford, UK
    338 schema:name Institute of Biological Anthropology, University of Oxford, OX2 6QS, Oxford, UK
    339 rdf:type schema:Organization
     




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


    ...