LD Score regression distinguishes confounding from polygenicity in genome-wide association studies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-02-02

AUTHORS

Brendan K Bulik-Sullivan, Po-Ru Loh, Hilary K Finucane, Stephan Ripke, Jian Yang, Nick Patterson, Mark J Daly, Alkes L Price, Benjamin M Neale

ABSTRACT

Benjamin Neale and colleagues report the LD Score regression method, used to distinguish the relative contributions of confounding bias and polygenicity to inflated test statistics in GWAS. They apply their method to summary statistics from GWAS for over 30 phenotypes, confirm that polygenicity accounts for the majority of inflation in test statistics and demonstrate use of this method as a correction factor. More... »

PAGES

291-295

References to SciGraph publications

  • 2004-08. The structure and evolution of centromeric transition regions within the human genome in NATURE
  • 2012-05-13. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance in NATURE GENETICS
  • 2006-07-23. Principal components analysis corrects for stratification in genome-wide association studies in NATURE GENETICS
  • 2010-04-25. Genome-wide meta-analyses identify multiple loci associated with smoking behavior in NATURE GENETICS
  • 2014-07-22. Biological insights from 108 schizophrenia-associated genetic loci in NATURE
  • 2011-09-04. FaST linear mixed models for genome-wide association studies in NATURE METHODS
  • 2012-04-15. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture in NATURE GENETICS
  • 2010-05-09. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci in NATURE GENETICS
  • 2010-09. Integrating common and rare genetic variation in diverse human populations in NATURE
  • 2011-03-06. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease in NATURE GENETICS
  • 2012-08-12. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes in NATURE GENETICS
  • 2012-04-03. A mega-analysis of genome-wide association studies for major depressive disorder in MOLECULAR PSYCHIATRY
  • 2010-09-29. Hundreds of variants clustered in genomic loci and biological pathways affect human height in NATURE
  • 2011-09-11. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk in NATURE
  • 2010-03-07. Variance component model to account for sample structure in genome-wide association studies in NATURE GENETICS
  • 2011-08-10. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis in NATURE
  • 2012-10-31. An integrated map of genetic variation from 1,092 human genomes in NATURE
  • 2012-10-31. Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease in NATURE
  • 2008-12-09. Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo in MOLECULAR PSYCHIATRY
  • 2011-03-16. Genomic inflation factors under polygenic inheritance in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-10-10. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index in NATURE GENETICS
  • 2010-10-10. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution in NATURE GENETICS
  • 2012-08-19. A mixed-model approach for genome-wide association studies of correlated traits in structured populations in NATURE GENETICS
  • 2011-09-18. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3211

    DOI

    http://dx.doi.org/10.1038/ng.3211

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1044444076

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25642630


    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/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Computer Simulation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome-Wide Association Study", 
            "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": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Regression Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sample Size", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.66859.34", 
              "name": [
                "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
                "Department of Medicine, Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA", 
                "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bulik-Sullivan", 
            "givenName": "Brendan K", 
            "id": "sg:person.01201444625.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201444625.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.38142.3c", 
              "name": [
                "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
                "Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Loh", 
            "givenName": "Po-Ru", 
            "id": "sg:person.014211634457.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014211634457.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.116068.8", 
              "name": [
                "Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA", 
                "Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Finucane", 
            "givenName": "Hilary K", 
            "id": "sg:person.01217411134.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217411134.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.66859.34", 
              "name": [
                "Department of Medicine, Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA", 
                "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ripke", 
            "givenName": "Stephan", 
            "id": "sg:person.01133572106.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133572106.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia", 
              "id": "http://www.grid.ac/institutes/grid.1003.2", 
              "name": [
                "Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yang", 
            "givenName": "Jian", 
            "id": "sg:person.0730724336.65", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730724336.65"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.66859.34", 
              "name": [
                "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Patterson", 
            "givenName": "Nick", 
            "id": "sg:person.0735501366.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735501366.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.66859.34", 
              "name": [
                "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
                "Department of Medicine, Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA", 
                "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Daly", 
            "givenName": "Mark J", 
            "id": "sg:person.011517303117.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.38142.3c", 
              "name": [
                "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
                "Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA", 
                "Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Price", 
            "givenName": "Alkes L", 
            "id": "sg:person.01342616137.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342616137.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.66859.34", 
              "name": [
                "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA", 
                "Department of Medicine, Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA", 
                "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Neale", 
            "givenName": "Benjamin M", 
            "id": "sg:person.014377465057.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014377465057.81"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nmeth.1681", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006195414", 
              "https://doi.org/10.1038/nmeth.1681"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.943", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014682139", 
              "https://doi.org/10.1038/ng.943"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.784", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000937327", 
              "https://doi.org/10.1038/ng.784"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/mp.2008.125", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051416181", 
              "https://doi.org/10.1038/mp.2008.125"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2274", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022356000", 
              "https://doi.org/10.1038/ng.2274"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature02806", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025178904", 
              "https://doi.org/10.1038/nature02806"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11582", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046541188", 
              "https://doi.org/10.1038/nature11582"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10405", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000059117", 
              "https://doi.org/10.1038/nature10405"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.685", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037442764", 
              "https://doi.org/10.1038/ng.685"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2383", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011024359", 
              "https://doi.org/10.1038/ng.2383"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11632", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000661742", 
              "https://doi.org/10.1038/nature11632"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/mp.2012.21", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026938504", 
              "https://doi.org/10.1038/mp.2012.21"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.686", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013643799", 
              "https://doi.org/10.1038/ng.686"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09298", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052674054", 
              "https://doi.org/10.1038/nature09298"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2249", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052981137", 
              "https://doi.org/10.1038/ng.2249"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.571", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015286406", 
              "https://doi.org/10.1038/ng.571"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.548", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016055940", 
              "https://doi.org/10.1038/ng.548"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1847", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031429813", 
              "https://doi.org/10.1038/ng1847"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13595", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021916306", 
              "https://doi.org/10.1038/nature13595"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2011.39", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051554988", 
              "https://doi.org/10.1038/ejhg.2011.39"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09410", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037714920", 
              "https://doi.org/10.1038/nature09410"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.582", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049406027", 
              "https://doi.org/10.1038/ng.582"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10251", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038635012", 
              "https://doi.org/10.1038/nature10251"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2376", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041264575", 
              "https://doi.org/10.1038/ng.2376"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2015-02-02", 
        "datePublishedReg": "2015-02-02", 
        "description": "Benjamin Neale and colleagues report the LD Score regression method, used to distinguish the relative contributions of confounding bias and polygenicity to inflated test statistics in GWAS. They apply their method to summary statistics from GWAS for over 30 phenotypes, confirm that polygenicity accounts for the majority of inflation in test statistics and demonstrate use of this method as a correction factor.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng.3211", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2692527", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2529444", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2569988", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3625430", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3957793", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2692526", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2551940", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2756061", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.9422335", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3863137", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5064274", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2705153", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552910", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "3", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "47"
          }
        ], 
        "keywords": [
          "test statistic", 
          "regression method", 
          "summary statistics", 
          "statistics", 
          "LD score regression", 
          "inflated test statistics", 
          "correction factor", 
          "polygenicity", 
          "score regression", 
          "genome-wide association studies", 
          "inflation", 
          "regression", 
          "contribution", 
          "bias", 
          "association studies", 
          "GWAS", 
          "use", 
          "relative contribution", 
          "study", 
          "factors", 
          "colleagues", 
          "phenotype", 
          "Neale", 
          "majority", 
          "method"
        ], 
        "name": "LD Score regression distinguishes confounding from polygenicity in genome-wide association studies", 
        "pagination": "291-295", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1044444076"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng.3211"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "25642630"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng.3211", 
          "https://app.dimensions.ai/details/publication/pub.1044444076"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-12-01T06:33", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/article/article_657.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng.3211"
      }
    ]
     

    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/ng.3211'

    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/ng.3211'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.3211'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.3211'


     

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

    312 TRIPLES      21 PREDICATES      82 URIs      50 LITERALS      15 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng.3211 schema:about N413638ac38b84886bcd43bff1030c860
    2 N6873ee9ab0974f17ae1988dc228e9a57
    3 N6d50c55fc43f4031bef30ca66824d125
    4 N8a626b1b909346de83a4f779aa649bcd
    5 N92f26b05522c4f828a1b06e28f282c5b
    6 Na6c41aa06ceb45c3bde6244817b5ab94
    7 Ncdd5ef4f63e04dd4b93b1151f258bdf5
    8 Nd206814c421a49eda543f35f86ff6c92
    9 anzsrc-for:06
    10 anzsrc-for:11
    11 schema:author N05be81b6483e4b8c9c8e026c508afd45
    12 schema:citation sg:pub.10.1038/ejhg.2011.39
    13 sg:pub.10.1038/mp.2008.125
    14 sg:pub.10.1038/mp.2012.21
    15 sg:pub.10.1038/nature02806
    16 sg:pub.10.1038/nature09298
    17 sg:pub.10.1038/nature09410
    18 sg:pub.10.1038/nature10251
    19 sg:pub.10.1038/nature10405
    20 sg:pub.10.1038/nature11582
    21 sg:pub.10.1038/nature11632
    22 sg:pub.10.1038/nature13595
    23 sg:pub.10.1038/ng.2249
    24 sg:pub.10.1038/ng.2274
    25 sg:pub.10.1038/ng.2376
    26 sg:pub.10.1038/ng.2383
    27 sg:pub.10.1038/ng.548
    28 sg:pub.10.1038/ng.571
    29 sg:pub.10.1038/ng.582
    30 sg:pub.10.1038/ng.685
    31 sg:pub.10.1038/ng.686
    32 sg:pub.10.1038/ng.784
    33 sg:pub.10.1038/ng.943
    34 sg:pub.10.1038/ng1847
    35 sg:pub.10.1038/nmeth.1681
    36 schema:datePublished 2015-02-02
    37 schema:datePublishedReg 2015-02-02
    38 schema:description Benjamin Neale and colleagues report the LD Score regression method, used to distinguish the relative contributions of confounding bias and polygenicity to inflated test statistics in GWAS. They apply their method to summary statistics from GWAS for over 30 phenotypes, confirm that polygenicity accounts for the majority of inflation in test statistics and demonstrate use of this method as a correction factor.
    39 schema:genre article
    40 schema:isAccessibleForFree true
    41 schema:isPartOf N806d951d0c3b4defb9d1b9ded0a42f4e
    42 Ncbe9ef6725774fa5a63ed117aaf69a64
    43 sg:journal.1103138
    44 schema:keywords GWAS
    45 LD score regression
    46 Neale
    47 association studies
    48 bias
    49 colleagues
    50 contribution
    51 correction factor
    52 factors
    53 genome-wide association studies
    54 inflated test statistics
    55 inflation
    56 majority
    57 method
    58 phenotype
    59 polygenicity
    60 regression
    61 regression method
    62 relative contribution
    63 score regression
    64 statistics
    65 study
    66 summary statistics
    67 test statistic
    68 use
    69 schema:name LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
    70 schema:pagination 291-295
    71 schema:productId N46b332a8bfd8410b943c820de2c05688
    72 N6a64eb259ffe4b46b1ddf7c6d8444374
    73 N6b2363a84be54d128bd75a16f0f03c15
    74 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044444076
    75 https://doi.org/10.1038/ng.3211
    76 schema:sdDatePublished 2022-12-01T06:33
    77 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    78 schema:sdPublisher Na479df06ca054ddeae188e44001eea03
    79 schema:url https://doi.org/10.1038/ng.3211
    80 sgo:license sg:explorer/license/
    81 sgo:sdDataset articles
    82 rdf:type schema:ScholarlyArticle
    83 N05be81b6483e4b8c9c8e026c508afd45 rdf:first sg:person.01201444625.22
    84 rdf:rest N69373b8eeb1c478ebfd1276f0c74d76c
    85 N2154abc0f3064ea7bdb7fc5789e6d828 rdf:first sg:person.01342616137.05
    86 rdf:rest Ndd24c589452a49a8a5126c7a3d6a2bbb
    87 N346e05c0a56c4c29831cf26d6e3f01a8 rdf:first sg:person.0730724336.65
    88 rdf:rest Nc2064346922e4b7ea666a6973a8919eb
    89 N413638ac38b84886bcd43bff1030c860 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    90 schema:name Regression Analysis
    91 rdf:type schema:DefinedTerm
    92 N46b332a8bfd8410b943c820de2c05688 schema:name doi
    93 schema:value 10.1038/ng.3211
    94 rdf:type schema:PropertyValue
    95 N6873ee9ab0974f17ae1988dc228e9a57 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    96 schema:name Humans
    97 rdf:type schema:DefinedTerm
    98 N69373b8eeb1c478ebfd1276f0c74d76c rdf:first sg:person.014211634457.16
    99 rdf:rest Na8c150b1d512427296999b3ac67e2b7c
    100 N6a64eb259ffe4b46b1ddf7c6d8444374 schema:name pubmed_id
    101 schema:value 25642630
    102 rdf:type schema:PropertyValue
    103 N6b2363a84be54d128bd75a16f0f03c15 schema:name dimensions_id
    104 schema:value pub.1044444076
    105 rdf:type schema:PropertyValue
    106 N6d50c55fc43f4031bef30ca66824d125 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    107 schema:name Genome-Wide Association Study
    108 rdf:type schema:DefinedTerm
    109 N806d951d0c3b4defb9d1b9ded0a42f4e schema:volumeNumber 47
    110 rdf:type schema:PublicationVolume
    111 N8a626b1b909346de83a4f779aa649bcd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Computer Simulation
    113 rdf:type schema:DefinedTerm
    114 N92f26b05522c4f828a1b06e28f282c5b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    115 schema:name Polymorphism, Single Nucleotide
    116 rdf:type schema:DefinedTerm
    117 N9a2aed5ea62e49a5be3663fc96e72f17 rdf:first sg:person.011517303117.07
    118 rdf:rest N2154abc0f3064ea7bdb7fc5789e6d828
    119 Na479df06ca054ddeae188e44001eea03 schema:name Springer Nature - SN SciGraph project
    120 rdf:type schema:Organization
    121 Na6c41aa06ceb45c3bde6244817b5ab94 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    122 schema:name Sample Size
    123 rdf:type schema:DefinedTerm
    124 Na8c150b1d512427296999b3ac67e2b7c rdf:first sg:person.01217411134.93
    125 rdf:rest Nebed911030f047de96805676d21226e4
    126 Nc2064346922e4b7ea666a6973a8919eb rdf:first sg:person.0735501366.78
    127 rdf:rest N9a2aed5ea62e49a5be3663fc96e72f17
    128 Ncbe9ef6725774fa5a63ed117aaf69a64 schema:issueNumber 3
    129 rdf:type schema:PublicationIssue
    130 Ncdd5ef4f63e04dd4b93b1151f258bdf5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    131 schema:name Genome, Human
    132 rdf:type schema:DefinedTerm
    133 Nd206814c421a49eda543f35f86ff6c92 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Linkage Disequilibrium
    135 rdf:type schema:DefinedTerm
    136 Ndd24c589452a49a8a5126c7a3d6a2bbb rdf:first sg:person.014377465057.81
    137 rdf:rest rdf:nil
    138 Nebed911030f047de96805676d21226e4 rdf:first sg:person.01133572106.62
    139 rdf:rest N346e05c0a56c4c29831cf26d6e3f01a8
    140 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    141 schema:name Biological Sciences
    142 rdf:type schema:DefinedTerm
    143 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    144 schema:name Medical and Health Sciences
    145 rdf:type schema:DefinedTerm
    146 sg:grant.2529444 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    147 rdf:type schema:MonetaryGrant
    148 sg:grant.2551940 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    149 rdf:type schema:MonetaryGrant
    150 sg:grant.2552910 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    151 rdf:type schema:MonetaryGrant
    152 sg:grant.2569988 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    153 rdf:type schema:MonetaryGrant
    154 sg:grant.2692526 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    155 rdf:type schema:MonetaryGrant
    156 sg:grant.2692527 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    157 rdf:type schema:MonetaryGrant
    158 sg:grant.2705153 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    159 rdf:type schema:MonetaryGrant
    160 sg:grant.2756061 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    161 rdf:type schema:MonetaryGrant
    162 sg:grant.3625430 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    163 rdf:type schema:MonetaryGrant
    164 sg:grant.3863137 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    165 rdf:type schema:MonetaryGrant
    166 sg:grant.3957793 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    167 rdf:type schema:MonetaryGrant
    168 sg:grant.5064274 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    169 rdf:type schema:MonetaryGrant
    170 sg:grant.9422335 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3211
    171 rdf:type schema:MonetaryGrant
    172 sg:journal.1103138 schema:issn 1061-4036
    173 1546-1718
    174 schema:name Nature Genetics
    175 schema:publisher Springer Nature
    176 rdf:type schema:Periodical
    177 sg:person.01133572106.62 schema:affiliation grid-institutes:grid.66859.34
    178 schema:familyName Ripke
    179 schema:givenName Stephan
    180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133572106.62
    181 rdf:type schema:Person
    182 sg:person.011517303117.07 schema:affiliation grid-institutes:grid.66859.34
    183 schema:familyName Daly
    184 schema:givenName Mark J
    185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07
    186 rdf:type schema:Person
    187 sg:person.01201444625.22 schema:affiliation grid-institutes:grid.66859.34
    188 schema:familyName Bulik-Sullivan
    189 schema:givenName Brendan K
    190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201444625.22
    191 rdf:type schema:Person
    192 sg:person.01217411134.93 schema:affiliation grid-institutes:grid.116068.8
    193 schema:familyName Finucane
    194 schema:givenName Hilary K
    195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217411134.93
    196 rdf:type schema:Person
    197 sg:person.01342616137.05 schema:affiliation grid-institutes:grid.38142.3c
    198 schema:familyName Price
    199 schema:givenName Alkes L
    200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342616137.05
    201 rdf:type schema:Person
    202 sg:person.014211634457.16 schema:affiliation grid-institutes:grid.38142.3c
    203 schema:familyName Loh
    204 schema:givenName Po-Ru
    205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014211634457.16
    206 rdf:type schema:Person
    207 sg:person.014377465057.81 schema:affiliation grid-institutes:grid.66859.34
    208 schema:familyName Neale
    209 schema:givenName Benjamin M
    210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014377465057.81
    211 rdf:type schema:Person
    212 sg:person.0730724336.65 schema:affiliation grid-institutes:grid.1003.2
    213 schema:familyName Yang
    214 schema:givenName Jian
    215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730724336.65
    216 rdf:type schema:Person
    217 sg:person.0735501366.78 schema:affiliation grid-institutes:grid.66859.34
    218 schema:familyName Patterson
    219 schema:givenName Nick
    220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735501366.78
    221 rdf:type schema:Person
    222 sg:pub.10.1038/ejhg.2011.39 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051554988
    223 https://doi.org/10.1038/ejhg.2011.39
    224 rdf:type schema:CreativeWork
    225 sg:pub.10.1038/mp.2008.125 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051416181
    226 https://doi.org/10.1038/mp.2008.125
    227 rdf:type schema:CreativeWork
    228 sg:pub.10.1038/mp.2012.21 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026938504
    229 https://doi.org/10.1038/mp.2012.21
    230 rdf:type schema:CreativeWork
    231 sg:pub.10.1038/nature02806 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025178904
    232 https://doi.org/10.1038/nature02806
    233 rdf:type schema:CreativeWork
    234 sg:pub.10.1038/nature09298 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052674054
    235 https://doi.org/10.1038/nature09298
    236 rdf:type schema:CreativeWork
    237 sg:pub.10.1038/nature09410 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037714920
    238 https://doi.org/10.1038/nature09410
    239 rdf:type schema:CreativeWork
    240 sg:pub.10.1038/nature10251 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038635012
    241 https://doi.org/10.1038/nature10251
    242 rdf:type schema:CreativeWork
    243 sg:pub.10.1038/nature10405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000059117
    244 https://doi.org/10.1038/nature10405
    245 rdf:type schema:CreativeWork
    246 sg:pub.10.1038/nature11582 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046541188
    247 https://doi.org/10.1038/nature11582
    248 rdf:type schema:CreativeWork
    249 sg:pub.10.1038/nature11632 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000661742
    250 https://doi.org/10.1038/nature11632
    251 rdf:type schema:CreativeWork
    252 sg:pub.10.1038/nature13595 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021916306
    253 https://doi.org/10.1038/nature13595
    254 rdf:type schema:CreativeWork
    255 sg:pub.10.1038/ng.2249 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052981137
    256 https://doi.org/10.1038/ng.2249
    257 rdf:type schema:CreativeWork
    258 sg:pub.10.1038/ng.2274 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022356000
    259 https://doi.org/10.1038/ng.2274
    260 rdf:type schema:CreativeWork
    261 sg:pub.10.1038/ng.2376 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041264575
    262 https://doi.org/10.1038/ng.2376
    263 rdf:type schema:CreativeWork
    264 sg:pub.10.1038/ng.2383 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011024359
    265 https://doi.org/10.1038/ng.2383
    266 rdf:type schema:CreativeWork
    267 sg:pub.10.1038/ng.548 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016055940
    268 https://doi.org/10.1038/ng.548
    269 rdf:type schema:CreativeWork
    270 sg:pub.10.1038/ng.571 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015286406
    271 https://doi.org/10.1038/ng.571
    272 rdf:type schema:CreativeWork
    273 sg:pub.10.1038/ng.582 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049406027
    274 https://doi.org/10.1038/ng.582
    275 rdf:type schema:CreativeWork
    276 sg:pub.10.1038/ng.685 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037442764
    277 https://doi.org/10.1038/ng.685
    278 rdf:type schema:CreativeWork
    279 sg:pub.10.1038/ng.686 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013643799
    280 https://doi.org/10.1038/ng.686
    281 rdf:type schema:CreativeWork
    282 sg:pub.10.1038/ng.784 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000937327
    283 https://doi.org/10.1038/ng.784
    284 rdf:type schema:CreativeWork
    285 sg:pub.10.1038/ng.943 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014682139
    286 https://doi.org/10.1038/ng.943
    287 rdf:type schema:CreativeWork
    288 sg:pub.10.1038/ng1847 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031429813
    289 https://doi.org/10.1038/ng1847
    290 rdf:type schema:CreativeWork
    291 sg:pub.10.1038/nmeth.1681 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006195414
    292 https://doi.org/10.1038/nmeth.1681
    293 rdf:type schema:CreativeWork
    294 grid-institutes:grid.1003.2 schema:alternateName Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia
    295 schema:name Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia
    296 rdf:type schema:Organization
    297 grid-institutes:grid.116068.8 schema:alternateName Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    298 schema:name Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
    299 Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    300 rdf:type schema:Organization
    301 grid-institutes:grid.38142.3c schema:alternateName Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
    302 Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
    303 schema:name Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
    304 Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
    305 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    306 rdf:type schema:Organization
    307 grid-institutes:grid.66859.34 schema:alternateName Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    308 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    309 schema:name Department of Medicine, Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    310 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    311 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    312 rdf:type schema:Organization
     




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


    ...