A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-12-31

AUTHORS

Jochen Hampe, Andre Franke, Philip Rosenstiel, Andreas Till, Markus Teuber, Klaus Huse, Mario Albrecht, Gabriele Mayr, Francisco M De La Vega, Jason Briggs, Simone Günther, Natalie J Prescott, Clive M Onnie, Robert Häsler, Bence Sipos, Ulrich R Fölsch, Thomas Lengauer, Matthias Platzer, Christopher G Mathew, Michael Krawczak, Stefan Schreiber

ABSTRACT

We performed a genome-wide association study of 19,779 nonsynonymous SNPs in 735 individuals with Crohn disease and 368 controls. A total of 7,159 of these SNPs were informative. We followed up on all 72 SNPs with P ≤ 0.01 with an allele-based disease association test in 380 independent Crohn disease trios, 498 Crohn disease singleton cases and 1,032 controls. Disease association of rs2241880 in the autophagy-related 16-like 1 gene (ATG16L1) was replicated in these samples (P = 4.0 × 10−8) and confirmed in a UK case-control sample (P = 0.0004). By haplotype and regression analysis, we found that marker rs2241880, a coding SNP (T300A), carries virtually all the disease risk exerted by the ATG16L1 locus. The ATG16L1 gene encodes a protein in the autophagosome pathway that processes intracellular bacteria. We found a statistically significant interaction with respect to Crohn disease risk between rs2241880 and the established CARD15 susceptibility variants (P = 0.039). Together with the lack of association between rs2241880 and ulcerative colitis (P > 0.4), these data suggest that the underlying biological process may be specific to Crohn disease. More... »

PAGES

207-211

Journal

TITLE

Nature Genetics

ISSUE

2

VOLUME

39

Related Patents

  • Methods Of Determining Responsiveness To Anti-Tnfα Therapy In Inflammatory Bowel Disease
  • Compositions And Methods For Determining Likelihood Of Twinning
  • Lipid-Containing Psa Compositions, Methods Of Isolation And Methods Of Use Thereof
  • Methods For Treating Bowel Diseases
  • Ileal Pouch-Anal Anastomosis (Ipaa) Factors In The Treatment Of Inflammatory Bowel Disease
  • Ppar Agonist Or Lxr Agonist For Use In The Treatment Of Systemic Lupus Erythematosus By Modulation Of Lap Activity
  • Methods For Treating Bowel Diseases
  • Signature Of Tl1a (Tnfsf15) Signaling Pathway
  • Methods For Treating, Diagnosing, And Monitoring Lupus
  • Compositions Comprising Desaminotyrosine And Uses Thereof To Enhance Type I Interferon Stimulation
  • Sepsis Treatment And Related Compositions Methods And Systems
  • Method Of Treating Autoimmune Inflammatory Disorders Using Il-23r Loss-Of-Function Mutants
  • Methods And Compositions For T Cell Generation And Uses Thereof
  • Methods Of Diagnosing Inflammatory Bowel Disease Through Rnaset2
  • Signature Of Tl1a (Tnfsf15) Signaling Pathway
  • Methods And Systems For Medical Sequencing Analysis
  • Crohn Disease Susceptibility Gene
  • Exo1 Promoter Polymorphism Associated With Exceptional Life Expectancy In Humans
  • Treatment And Reversal Of Fibrosis And Inflammation By Inhibition Of The Tl1a-Dr3 Signaling Pathway
  • Crohn Disease Susceptibility Gene
  • Methods Of Treating Chronic Inflammatory Diseases
  • Method For Identifying An Increased Susceptibility To Ulcerative Colitis
  • Probiotic Prevention And Treatment Of Colon Cancer
  • Lipidated Psa Compositions And Methods
  • Methods Of Predicting Medically Refractive Ulcerative Colitis (Mr-Uc) Requiring Colectomy
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1954

    DOI

    http://dx.doi.org/10.1038/ng1954

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1020669934

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/17200669


    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": "Autophagy-Related Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Carrier Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Crohn Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Models, Molecular", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Molecular Sequence Data", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nod2 Signaling Adaptor Protein", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
                "First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hampe", 
            "givenName": "Jochen", 
            "id": "sg:person.0770420375.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770420375.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Franke", 
            "givenName": "Andre", 
            "id": "sg:person.01262760646.95", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262760646.95"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Max-Planck Institute for Molecular Genetics, Ihnestr. 63, 14195, Berlin, Germany", 
              "id": "http://www.grid.ac/institutes/grid.419538.2", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
                "Max-Planck Institute for Molecular Genetics, Ihnestr. 63, 14195, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rosenstiel", 
            "givenName": "Philip", 
            "id": "sg:person.01026521124.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026521124.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Till", 
            "givenName": "Andreas", 
            "id": "sg:person.01013063360.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013063360.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Teuber", 
            "givenName": "Markus", 
            "id": "sg:person.01063360326.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063360326.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Genome Analysis Group, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany", 
              "id": "http://www.grid.ac/institutes/grid.418245.e", 
              "name": [
                "Genome Analysis Group, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Huse", 
            "givenName": "Klaus", 
            "id": "sg:person.0747726071.53", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747726071.53"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbr\u00fccken, Germany", 
              "id": "http://www.grid.ac/institutes/grid.419528.3", 
              "name": [
                "Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbr\u00fccken, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Albrecht", 
            "givenName": "Mario", 
            "id": "sg:person.0620663342.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620663342.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbr\u00fccken, Germany", 
              "id": "http://www.grid.ac/institutes/grid.419528.3", 
              "name": [
                "Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbr\u00fccken, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mayr", 
            "givenName": "Gabriele", 
            "id": "sg:person.01311055043.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311055043.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.418190.5", 
              "name": [
                "Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "De La Vega", 
            "givenName": "Francisco M", 
            "id": "sg:person.01064466312.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064466312.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.418190.5", 
              "name": [
                "Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Briggs", 
            "givenName": "Jason", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.418190.5", 
              "name": [
                "Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "G\u00fcnther", 
            "givenName": "Simone", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Prescott", 
            "givenName": "Natalie J", 
            "id": "sg:person.012272327615.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012272327615.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Onnie", 
            "givenName": "Clive M", 
            "id": "sg:person.0715260177.20", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715260177.20"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "H\u00e4sler", 
            "givenName": "Robert", 
            "id": "sg:person.01333531120.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333531120.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pathology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Department of Pathology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sipos", 
            "givenName": "Bence", 
            "id": "sg:person.01325621575.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325621575.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "F\u00f6lsch", 
            "givenName": "Ulrich R", 
            "id": "sg:person.01215234275.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215234275.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbr\u00fccken, Germany", 
              "id": "http://www.grid.ac/institutes/grid.419528.3", 
              "name": [
                "Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbr\u00fccken, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lengauer", 
            "givenName": "Thomas", 
            "id": "sg:person.01360543616.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360543616.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Genome Analysis Group, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany", 
              "id": "http://www.grid.ac/institutes/grid.418245.e", 
              "name": [
                "Genome Analysis Group, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Platzer", 
            "givenName": "Matthias", 
            "id": "sg:person.01314631471.28", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314631471.28"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mathew", 
            "givenName": "Christopher G", 
            "id": "sg:person.01313422073.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313422073.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Krawczak", 
            "givenName": "Michael", 
            "id": "sg:person.0654171775.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654171775.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9764.c", 
              "name": [
                "Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany", 
                "First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schreiber", 
            "givenName": "Stefan", 
            "id": "sg:person.01223143620.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223143620.01"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng1345", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039933647", 
              "https://doi.org/10.1038/ng1345"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1339", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005955498", 
              "https://doi.org/10.1038/ng1339"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5200897", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011406469", 
              "https://doi.org/10.1038/sj.ejhg.5200897"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1800", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051266156", 
              "https://doi.org/10.1038/ng1800"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35079107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031360950", 
              "https://doi.org/10.1038/35079107"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ni1092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015719340", 
              "https://doi.org/10.1038/ni1092"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1001-223", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004202019", 
              "https://doi.org/10.1038/ng1001-223"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35079114", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030806509", 
              "https://doi.org/10.1038/35079114"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-003-1020-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051183807", 
              "https://doi.org/10.1007/s00439-003-1020-7"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2006-12-31", 
        "datePublishedReg": "2006-12-31", 
        "description": "We performed a genome-wide association study of 19,779 nonsynonymous SNPs in 735 individuals with Crohn disease and 368 controls. A total of 7,159 of these SNPs were informative. We followed up on all 72 SNPs with P \u2264 0.01 with an allele-based disease association test in 380 independent Crohn disease trios, 498 Crohn disease singleton cases and 1,032 controls. Disease association of rs2241880 in the autophagy-related 16-like 1 gene (ATG16L1) was replicated in these samples (P = 4.0 \u00d7 10\u22128) and confirmed in a UK case-control sample (P = 0.0004). By haplotype and regression analysis, we found that marker rs2241880, a coding SNP (T300A), carries virtually all the disease risk exerted by the ATG16L1 locus. The ATG16L1 gene encodes a protein in the autophagosome pathway that processes intracellular bacteria. We found a statistically significant interaction with respect to Crohn disease risk between rs2241880 and the established CARD15 susceptibility variants (P = 0.039). Together with the lack of association between rs2241880 and ulcerative colitis (P > 0.4), these data suggest that the underlying biological process may be specific to Crohn disease.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng1954", 
        "isAccessibleForFree": false, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2786745", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3635287", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "2", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "39"
          }
        ], 
        "keywords": [
          "susceptibility variants", 
          "wide association scan", 
          "wide association study", 
          "underlying biological processes", 
          "association scan", 
          "autophagosome pathway", 
          "nonsynonymous SNPs", 
          "biological processes", 
          "association studies", 
          "case-control sample", 
          "SNPs", 
          "ATG16L1 gene", 
          "Crohn's disease risk", 
          "genes", 
          "disease associations", 
          "disease risk", 
          "Association Test", 
          "loci", 
          "variants", 
          "protein", 
          "haplotypes", 
          "bacteria", 
          "pathway", 
          "trios", 
          "singleton cases", 
          "lack of association", 
          "rs2241880", 
          "disease", 
          "interaction", 
          "significant interaction", 
          "association", 
          "identifies", 
          "control", 
          "individuals", 
          "analysis", 
          "Crohn's disease", 
          "process", 
          "lack", 
          "samples", 
          "study", 
          "data", 
          "total", 
          "respect", 
          "risk", 
          "test", 
          "colitis", 
          "ulcerative colitis", 
          "cases", 
          "regression analysis", 
          "scans"
        ], 
        "name": "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1", 
        "pagination": "207-211", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1020669934"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng1954"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "17200669"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng1954", 
          "https://app.dimensions.ai/details/publication/pub.1020669934"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-10-01T06:33", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20221001/entities/gbq_results/article/article_427.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng1954"
      }
    ]
     

    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/ng1954'

    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/ng1954'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1954'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1954'


     

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

    347 TRIPLES      21 PREDICATES      93 URIs      76 LITERALS      16 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng1954 schema:about N0a0c345574ac4c9bbcf9cfa6cf749924
    2 N174ca078c8b84300a5114a807001d57b
    3 N2a2c582673af4ce5b91a75f7f8de485b
    4 N44ef9d29a9b94642a8aa1c04e24798bc
    5 N5a3990053661456a89d6bbbcc7285b8e
    6 Na1092cdca1a74738b8c3337c0892aba9
    7 Nde87aa8313224d5ab2f088d701af8a5c
    8 Ne3bb129740f749098d7dd657d65703b9
    9 Nea10ca5cac8c477bab51cba82bf48ff0
    10 anzsrc-for:06
    11 anzsrc-for:0604
    12 schema:author N453fec06e8d44e35bb739afc76b62aa7
    13 schema:citation sg:pub.10.1007/s00439-003-1020-7
    14 sg:pub.10.1038/35079107
    15 sg:pub.10.1038/35079114
    16 sg:pub.10.1038/ng1001-223
    17 sg:pub.10.1038/ng1339
    18 sg:pub.10.1038/ng1345
    19 sg:pub.10.1038/ng1800
    20 sg:pub.10.1038/ni1092
    21 sg:pub.10.1038/sj.ejhg.5200897
    22 schema:datePublished 2006-12-31
    23 schema:datePublishedReg 2006-12-31
    24 schema:description We performed a genome-wide association study of 19,779 nonsynonymous SNPs in 735 individuals with Crohn disease and 368 controls. A total of 7,159 of these SNPs were informative. We followed up on all 72 SNPs with P ≤ 0.01 with an allele-based disease association test in 380 independent Crohn disease trios, 498 Crohn disease singleton cases and 1,032 controls. Disease association of rs2241880 in the autophagy-related 16-like 1 gene (ATG16L1) was replicated in these samples (P = 4.0 × 10−8) and confirmed in a UK case-control sample (P = 0.0004). By haplotype and regression analysis, we found that marker rs2241880, a coding SNP (T300A), carries virtually all the disease risk exerted by the ATG16L1 locus. The ATG16L1 gene encodes a protein in the autophagosome pathway that processes intracellular bacteria. We found a statistically significant interaction with respect to Crohn disease risk between rs2241880 and the established CARD15 susceptibility variants (P = 0.039). Together with the lack of association between rs2241880 and ulcerative colitis (P > 0.4), these data suggest that the underlying biological process may be specific to Crohn disease.
    25 schema:genre article
    26 schema:isAccessibleForFree false
    27 schema:isPartOf Nd8c740d5c94946f3b46209f15ef1b7f2
    28 Nf299e9f2cf6f4690a50312fb14077fc4
    29 sg:journal.1103138
    30 schema:keywords ATG16L1 gene
    31 Association Test
    32 Crohn's disease
    33 Crohn's disease risk
    34 SNPs
    35 analysis
    36 association
    37 association scan
    38 association studies
    39 autophagosome pathway
    40 bacteria
    41 biological processes
    42 case-control sample
    43 cases
    44 colitis
    45 control
    46 data
    47 disease
    48 disease associations
    49 disease risk
    50 genes
    51 haplotypes
    52 identifies
    53 individuals
    54 interaction
    55 lack
    56 lack of association
    57 loci
    58 nonsynonymous SNPs
    59 pathway
    60 process
    61 protein
    62 regression analysis
    63 respect
    64 risk
    65 rs2241880
    66 samples
    67 scans
    68 significant interaction
    69 singleton cases
    70 study
    71 susceptibility variants
    72 test
    73 total
    74 trios
    75 ulcerative colitis
    76 underlying biological processes
    77 variants
    78 wide association scan
    79 wide association study
    80 schema:name A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
    81 schema:pagination 207-211
    82 schema:productId N0ce5fd7b00964c788cecf138a6d79824
    83 N8d422d984ec0470d9b1f01b261759d69
    84 N9907625270c94054a12cc161551ebd67
    85 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020669934
    86 https://doi.org/10.1038/ng1954
    87 schema:sdDatePublished 2022-10-01T06:33
    88 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    89 schema:sdPublisher Nf946586bd6834fbda83171d7f4652ee0
    90 schema:url https://doi.org/10.1038/ng1954
    91 sgo:license sg:explorer/license/
    92 sgo:sdDataset articles
    93 rdf:type schema:ScholarlyArticle
    94 N048885ccc4234e33a1dce6919a9fc8a6 rdf:first sg:person.01333531120.35
    95 rdf:rest N15b2bddadc22496391c2403fb077dcc5
    96 N0932cd4a55b74c9bb89900df42303eb7 rdf:first sg:person.01314631471.28
    97 rdf:rest Ned2a09a8174e47679d1a50fbc92bb1db
    98 N0a0c345574ac4c9bbcf9cfa6cf749924 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    99 schema:name Crohn Disease
    100 rdf:type schema:DefinedTerm
    101 N0aff64e84bbe4382ae95db58aa36ada8 rdf:first Nf9ed4587064b411992026d03dd9e3607
    102 rdf:rest Ne2da4cb50ce44a0aaf16a6f401373760
    103 N0ce5fd7b00964c788cecf138a6d79824 schema:name dimensions_id
    104 schema:value pub.1020669934
    105 rdf:type schema:PropertyValue
    106 N0d5264d20ddb46cb9351e85288c30d63 rdf:first sg:person.0654171775.32
    107 rdf:rest N8f4af5593d3f4e3ba5683608f50ca53e
    108 N15b2bddadc22496391c2403fb077dcc5 rdf:first sg:person.01325621575.00
    109 rdf:rest Nd51cb77bb7ef4a32b0e39154423ae028
    110 N174ca078c8b84300a5114a807001d57b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    111 schema:name Models, Molecular
    112 rdf:type schema:DefinedTerm
    113 N2a2c582673af4ce5b91a75f7f8de485b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    114 schema:name Genetic Predisposition to Disease
    115 rdf:type schema:DefinedTerm
    116 N398d47e424b449e88ffa9e5a3cdd6f1e rdf:first sg:person.01013063360.04
    117 rdf:rest Nb618e69384c74c96bf2460e53334c960
    118 N44ef9d29a9b94642a8aa1c04e24798bc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    119 schema:name Molecular Sequence Data
    120 rdf:type schema:DefinedTerm
    121 N453fec06e8d44e35bb739afc76b62aa7 rdf:first sg:person.0770420375.31
    122 rdf:rest Nbd9068bc514343fd9d76013b50215b7d
    123 N5a3990053661456a89d6bbbcc7285b8e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    124 schema:name Polymorphism, Single Nucleotide
    125 rdf:type schema:DefinedTerm
    126 N656db50930a34b0fa2bea01af7bfecd7 rdf:first sg:person.01026521124.04
    127 rdf:rest N398d47e424b449e88ffa9e5a3cdd6f1e
    128 N7e50e2ffa06749bf8f66025e422926eb rdf:first sg:person.012272327615.00
    129 rdf:rest Nff7e222019834eaeb7ab828a42e8184e
    130 N89bb1743535d49808ca40e3ff69695f4 rdf:first sg:person.01360543616.07
    131 rdf:rest N0932cd4a55b74c9bb89900df42303eb7
    132 N8d422d984ec0470d9b1f01b261759d69 schema:name doi
    133 schema:value 10.1038/ng1954
    134 rdf:type schema:PropertyValue
    135 N8f4af5593d3f4e3ba5683608f50ca53e rdf:first sg:person.01223143620.01
    136 rdf:rest rdf:nil
    137 N9907625270c94054a12cc161551ebd67 schema:name pubmed_id
    138 schema:value 17200669
    139 rdf:type schema:PropertyValue
    140 Na1092cdca1a74738b8c3337c0892aba9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    141 schema:name Humans
    142 rdf:type schema:DefinedTerm
    143 Nb47b85f6d9174929a656459e11f8c725 rdf:first sg:person.01311055043.04
    144 rdf:rest Nb5c810af6edd4123a3855f590c583dfc
    145 Nb5c810af6edd4123a3855f590c583dfc rdf:first sg:person.01064466312.51
    146 rdf:rest N0aff64e84bbe4382ae95db58aa36ada8
    147 Nb618e69384c74c96bf2460e53334c960 rdf:first sg:person.01063360326.04
    148 rdf:rest Nf3e38c29c01a4cdb96ef6e4a552d8523
    149 Nbd9068bc514343fd9d76013b50215b7d rdf:first sg:person.01262760646.95
    150 rdf:rest N656db50930a34b0fa2bea01af7bfecd7
    151 Nc22badab9de546f3b3f417254812e610 schema:affiliation grid-institutes:grid.418190.5
    152 schema:familyName Günther
    153 schema:givenName Simone
    154 rdf:type schema:Person
    155 Nd51cb77bb7ef4a32b0e39154423ae028 rdf:first sg:person.01215234275.06
    156 rdf:rest N89bb1743535d49808ca40e3ff69695f4
    157 Nd8c740d5c94946f3b46209f15ef1b7f2 schema:issueNumber 2
    158 rdf:type schema:PublicationIssue
    159 Nde87aa8313224d5ab2f088d701af8a5c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    160 schema:name Nod2 Signaling Adaptor Protein
    161 rdf:type schema:DefinedTerm
    162 Ne2da4cb50ce44a0aaf16a6f401373760 rdf:first Nc22badab9de546f3b3f417254812e610
    163 rdf:rest N7e50e2ffa06749bf8f66025e422926eb
    164 Ne3bb129740f749098d7dd657d65703b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name Autophagy-Related Proteins
    166 rdf:type schema:DefinedTerm
    167 Ne6b381f7a7b340359ff8404cec75a0bd rdf:first sg:person.0620663342.45
    168 rdf:rest Nb47b85f6d9174929a656459e11f8c725
    169 Nea10ca5cac8c477bab51cba82bf48ff0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Carrier Proteins
    171 rdf:type schema:DefinedTerm
    172 Ned2a09a8174e47679d1a50fbc92bb1db rdf:first sg:person.01313422073.62
    173 rdf:rest N0d5264d20ddb46cb9351e85288c30d63
    174 Nf299e9f2cf6f4690a50312fb14077fc4 schema:volumeNumber 39
    175 rdf:type schema:PublicationVolume
    176 Nf3e38c29c01a4cdb96ef6e4a552d8523 rdf:first sg:person.0747726071.53
    177 rdf:rest Ne6b381f7a7b340359ff8404cec75a0bd
    178 Nf946586bd6834fbda83171d7f4652ee0 schema:name Springer Nature - SN SciGraph project
    179 rdf:type schema:Organization
    180 Nf9ed4587064b411992026d03dd9e3607 schema:affiliation grid-institutes:grid.418190.5
    181 schema:familyName Briggs
    182 schema:givenName Jason
    183 rdf:type schema:Person
    184 Nff7e222019834eaeb7ab828a42e8184e rdf:first sg:person.0715260177.20
    185 rdf:rest N048885ccc4234e33a1dce6919a9fc8a6
    186 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    187 schema:name Biological Sciences
    188 rdf:type schema:DefinedTerm
    189 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    190 schema:name Genetics
    191 rdf:type schema:DefinedTerm
    192 sg:grant.2786745 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1954
    193 rdf:type schema:MonetaryGrant
    194 sg:grant.3635287 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1954
    195 rdf:type schema:MonetaryGrant
    196 sg:journal.1103138 schema:issn 1061-4036
    197 1546-1718
    198 schema:name Nature Genetics
    199 schema:publisher Springer Nature
    200 rdf:type schema:Periodical
    201 sg:person.01013063360.04 schema:affiliation grid-institutes:grid.9764.c
    202 schema:familyName Till
    203 schema:givenName Andreas
    204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013063360.04
    205 rdf:type schema:Person
    206 sg:person.01026521124.04 schema:affiliation grid-institutes:grid.419538.2
    207 schema:familyName Rosenstiel
    208 schema:givenName Philip
    209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026521124.04
    210 rdf:type schema:Person
    211 sg:person.01063360326.04 schema:affiliation grid-institutes:grid.9764.c
    212 schema:familyName Teuber
    213 schema:givenName Markus
    214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063360326.04
    215 rdf:type schema:Person
    216 sg:person.01064466312.51 schema:affiliation grid-institutes:grid.418190.5
    217 schema:familyName De La Vega
    218 schema:givenName Francisco M
    219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064466312.51
    220 rdf:type schema:Person
    221 sg:person.01215234275.06 schema:affiliation grid-institutes:grid.9764.c
    222 schema:familyName Fölsch
    223 schema:givenName Ulrich R
    224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215234275.06
    225 rdf:type schema:Person
    226 sg:person.01223143620.01 schema:affiliation grid-institutes:grid.9764.c
    227 schema:familyName Schreiber
    228 schema:givenName Stefan
    229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223143620.01
    230 rdf:type schema:Person
    231 sg:person.012272327615.00 schema:affiliation grid-institutes:grid.13097.3c
    232 schema:familyName Prescott
    233 schema:givenName Natalie J
    234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012272327615.00
    235 rdf:type schema:Person
    236 sg:person.01262760646.95 schema:affiliation grid-institutes:grid.9764.c
    237 schema:familyName Franke
    238 schema:givenName Andre
    239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262760646.95
    240 rdf:type schema:Person
    241 sg:person.01311055043.04 schema:affiliation grid-institutes:grid.419528.3
    242 schema:familyName Mayr
    243 schema:givenName Gabriele
    244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311055043.04
    245 rdf:type schema:Person
    246 sg:person.01313422073.62 schema:affiliation grid-institutes:grid.13097.3c
    247 schema:familyName Mathew
    248 schema:givenName Christopher G
    249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313422073.62
    250 rdf:type schema:Person
    251 sg:person.01314631471.28 schema:affiliation grid-institutes:grid.418245.e
    252 schema:familyName Platzer
    253 schema:givenName Matthias
    254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314631471.28
    255 rdf:type schema:Person
    256 sg:person.01325621575.00 schema:affiliation grid-institutes:grid.9764.c
    257 schema:familyName Sipos
    258 schema:givenName Bence
    259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325621575.00
    260 rdf:type schema:Person
    261 sg:person.01333531120.35 schema:affiliation grid-institutes:grid.9764.c
    262 schema:familyName Häsler
    263 schema:givenName Robert
    264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333531120.35
    265 rdf:type schema:Person
    266 sg:person.01360543616.07 schema:affiliation grid-institutes:grid.419528.3
    267 schema:familyName Lengauer
    268 schema:givenName Thomas
    269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360543616.07
    270 rdf:type schema:Person
    271 sg:person.0620663342.45 schema:affiliation grid-institutes:grid.419528.3
    272 schema:familyName Albrecht
    273 schema:givenName Mario
    274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620663342.45
    275 rdf:type schema:Person
    276 sg:person.0654171775.32 schema:affiliation grid-institutes:grid.9764.c
    277 schema:familyName Krawczak
    278 schema:givenName Michael
    279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654171775.32
    280 rdf:type schema:Person
    281 sg:person.0715260177.20 schema:affiliation grid-institutes:grid.13097.3c
    282 schema:familyName Onnie
    283 schema:givenName Clive M
    284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715260177.20
    285 rdf:type schema:Person
    286 sg:person.0747726071.53 schema:affiliation grid-institutes:grid.418245.e
    287 schema:familyName Huse
    288 schema:givenName Klaus
    289 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747726071.53
    290 rdf:type schema:Person
    291 sg:person.0770420375.31 schema:affiliation grid-institutes:grid.9764.c
    292 schema:familyName Hampe
    293 schema:givenName Jochen
    294 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770420375.31
    295 rdf:type schema:Person
    296 sg:pub.10.1007/s00439-003-1020-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051183807
    297 https://doi.org/10.1007/s00439-003-1020-7
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1038/35079107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031360950
    300 https://doi.org/10.1038/35079107
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1038/35079114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030806509
    303 https://doi.org/10.1038/35079114
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1038/ng1001-223 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004202019
    306 https://doi.org/10.1038/ng1001-223
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1038/ng1339 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005955498
    309 https://doi.org/10.1038/ng1339
    310 rdf:type schema:CreativeWork
    311 sg:pub.10.1038/ng1345 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039933647
    312 https://doi.org/10.1038/ng1345
    313 rdf:type schema:CreativeWork
    314 sg:pub.10.1038/ng1800 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051266156
    315 https://doi.org/10.1038/ng1800
    316 rdf:type schema:CreativeWork
    317 sg:pub.10.1038/ni1092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015719340
    318 https://doi.org/10.1038/ni1092
    319 rdf:type schema:CreativeWork
    320 sg:pub.10.1038/sj.ejhg.5200897 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011406469
    321 https://doi.org/10.1038/sj.ejhg.5200897
    322 rdf:type schema:CreativeWork
    323 grid-institutes:grid.13097.3c schema:alternateName Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK
    324 schema:name Department of Medical and Molecular Genetics, King's College London School of Medicine, SE1 9RT, London, UK
    325 rdf:type schema:Organization
    326 grid-institutes:grid.418190.5 schema:alternateName Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA
    327 schema:name Applied Biosystems, 850 Lincoln Center Drive, 94404, Foster City, California, USA
    328 rdf:type schema:Organization
    329 grid-institutes:grid.418245.e schema:alternateName Genome Analysis Group, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany
    330 schema:name Genome Analysis Group, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany
    331 rdf:type schema:Organization
    332 grid-institutes:grid.419528.3 schema:alternateName Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbrücken, Germany
    333 schema:name Max Planck Institute for Informatics, Stuhlsatzenhausweg 85, 66123, Saarbrücken, Germany
    334 rdf:type schema:Organization
    335 grid-institutes:grid.419538.2 schema:alternateName Max-Planck Institute for Molecular Genetics, Ihnestr. 63, 14195, Berlin, Germany
    336 schema:name Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    337 Max-Planck Institute for Molecular Genetics, Ihnestr. 63, 14195, Berlin, Germany
    338 rdf:type schema:Organization
    339 grid-institutes:grid.9764.c schema:alternateName Department of Pathology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    340 First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    341 Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    342 Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    343 schema:name Department of Pathology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    344 First Department of Medicine, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    345 Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    346 Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein, 24105, Kiel, Germany
    347 rdf:type schema:Organization
     




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


    ...