Common deletion polymorphisms in the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-01

AUTHORS

Steven A McCarroll, Tracy N Hadnott, George H Perry, Pardis C Sabeti, Michael C Zody, Jeffrey C Barrett, Stephanie Dallaire, Stacey B Gabriel, Charles Lee, Mark J Daly, David M Altshuler, The International HapMap Consortium

ABSTRACT

The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb in size; 278 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state. The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response. These common deletion polymorphisms typically represent ancestral mutations that are in linkage disequilibrium with nearby SNPs, meaning that their association to disease can often be evaluated in the course of SNP-based whole-genome association studies. More... »

PAGES

86-92

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1696

DOI

http://dx.doi.org/10.1038/ng1696

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002416433

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16468122


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Continental Population Groups", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Databases, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Techniques", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genome, Human", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "In Situ Hybridization, Fluorescence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Linkage Disequilibrium", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Models, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymerase Chain Reaction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Deletion", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.", 
            "Center for Human Genetic Research, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.", 
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "McCarroll", 
        "givenName": "Steven A", 
        "id": "sg:person.0736420010.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736420010.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hadnott", 
        "givenName": "Tracy N", 
        "id": "sg:person.01151537314.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151537314.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Brigham and Women's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.62560.37", 
          "name": [
            "Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Perry", 
        "givenName": "George H", 
        "id": "sg:person.01365612343.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365612343.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sabeti", 
        "givenName": "Pardis C", 
        "id": "sg:person.0772575234.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772575234.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zody", 
        "givenName": "Michael C", 
        "id": "sg:person.0766220260.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766220260.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Barrett", 
        "givenName": "Jeffrey C", 
        "id": "sg:person.016605250747.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016605250747.79"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Brigham and Women's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.62560.37", 
          "name": [
            "Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dallaire", 
        "givenName": "Stephanie", 
        "id": "sg:person.0634355055.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634355055.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gabriel", 
        "givenName": "Stacey B", 
        "id": "sg:person.012151177437.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012151177437.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA.", 
            "Harvard Medical School, Boston, Massachusetts 02115, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lee", 
        "givenName": "Charles", 
        "id": "sg:person.016077613317.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016077613317.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Center for Human Genetic Research, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.", 
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA.", 
            "Harvard Medical School, Boston, Massachusetts 02115, USA.", 
            "Department of Medicine, Massachusetts General Hospital, Simches Research Center, 185 Cambridge St., Boston, Massachusetts 02114, 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": "Massachusetts General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.", 
            "Center for Human Genetic Research, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.", 
            "Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA.", 
            "Harvard Medical School, Boston, Massachusetts 02115, USA.", 
            "Department of Medicine, Massachusetts General Hospital, Simches Research Center, 185 Cambridge St., Boston, Massachusetts 02114, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Altshuler", 
        "givenName": "David M", 
        "id": "sg:person.013764756044.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013764756044.24"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Consortium", 
        "givenName": "The International HapMap", 
        "id": "sg:person.015465505715.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015465505715.22"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1086/431652", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000963641"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/431652", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000963641"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1416", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002767840", 
          "https://doi.org/10.1038/ng1416"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1416", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002767840", 
          "https://doi.org/10.1038/ng1416"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.85.19.7293", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004568675"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1072047", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006710139"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/bth457", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008081196"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1562", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014017119", 
          "https://doi.org/10.1038/ng1562"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1562", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014017119", 
          "https://doi.org/10.1038/ng1562"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1562", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014017119", 
          "https://doi.org/10.1038/ng1562"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj3000271", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016442357"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj3000271", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016442357"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature04226", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017293702", 
          "https://doi.org/10.1038/nature04226"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature04226", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017293702", 
          "https://doi.org/10.1038/nature04226"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature04226", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017293702", 
          "https://doi.org/10.1038/nature04226"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1697", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027902994", 
          "https://doi.org/10.1038/ng1697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1697", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027902994", 
          "https://doi.org/10.1038/ng1697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1697", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027902994", 
          "https://doi.org/10.1038/ng1697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(93)90058-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031366256"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ygeno.2004.06.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031377525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320140108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031698311"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320140108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031698311"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1695", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032451322", 
          "https://doi.org/10.1038/ng1695"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1695", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032451322", 
          "https://doi.org/10.1038/ng1695"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1098918", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037256982"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature02797", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042359509", 
          "https://doi.org/10.1038/nature02797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature02797", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042359509", 
          "https://doi.org/10.1038/nature02797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1669", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042975627", 
          "https://doi.org/10.1038/ng1669"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1669", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042975627", 
          "https://doi.org/10.1038/ng1669"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1669", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042975627", 
          "https://doi.org/10.1038/ng1669"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/426461", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058714709"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00008571-199806000-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060289592"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00008571-199806000-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060289592"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00008571-199806000-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060289592"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-01", 
    "datePublishedReg": "2006-01-01", 
    "description": "The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb in size; 278 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state. The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response. These common deletion polymorphisms typically represent ancestral mutations that are in linkage disequilibrium with nearby SNPs, meaning that their association to disease can often be evaluated in the course of SNP-based whole-genome association studies.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1696", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "38"
      }
    ], 
    "name": "Common deletion polymorphisms in the human genome", 
    "pagination": "86-92", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1696"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "0b81303e01ac0e19ef369a087043bd1718175b5b73f21e9638159da21e2c4e26"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1002416433"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16468122"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1696", 
      "https://app.dimensions.ai/details/publication/pub.1002416433"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-15T08:58", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000375_0000000375/records_91428_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1696"
  }
]
 

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/ng1696'

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/ng1696'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1696'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1696'


 

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

278 TRIPLES      21 PREDICATES      61 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1696 schema:about N025f15d108064f4cabd28aae88d5defd
2 N152aebb4a89647b5997a97fdf4faffd1
3 N24ccfd13fd8a428a9e4ac4f9275df205
4 N3f642dd1ac0341e5ba231740d16e588a
5 N5fc20c3c16ba428bb97a0269619f432b
6 N61a41691a606437fbf958de11d0593dc
7 N87cf3af059cd480dbb49f1cd82d41b56
8 N98c6da07c54743338101942ad0d3d1c9
9 Na68e3dffdd974676b1b373c147fb97f8
10 Nac4b7c14314c4ac284c99dcdd773fab7
11 Nbb2820e60ffa4e98883c04c9a22b6111
12 Nd215dd412289417487a0c0b6da6ee86f
13 Ne45c7c2ecb864e92846647d83767680b
14 Nf379c2c00fd643b3962c946f2c034b8c
15 anzsrc-for:06
16 anzsrc-for:0604
17 schema:author N516aa2e3e85149c2bff2e25c90495967
18 schema:citation sg:pub.10.1038/nature02797
19 sg:pub.10.1038/nature04226
20 sg:pub.10.1038/ng1416
21 sg:pub.10.1038/ng1562
22 sg:pub.10.1038/ng1669
23 sg:pub.10.1038/ng1695
24 sg:pub.10.1038/ng1697
25 https://doi.org/10.1002/ajmg.1320140108
26 https://doi.org/10.1016/0092-8674(93)90058-x
27 https://doi.org/10.1016/j.ygeno.2004.06.011
28 https://doi.org/10.1042/bj3000271
29 https://doi.org/10.1073/pnas.85.19.7293
30 https://doi.org/10.1086/426461
31 https://doi.org/10.1086/431652
32 https://doi.org/10.1093/bioinformatics/bth457
33 https://doi.org/10.1097/00008571-199806000-00006
34 https://doi.org/10.1126/science.1072047
35 https://doi.org/10.1126/science.1098918
36 schema:datePublished 2006-01
37 schema:datePublishedReg 2006-01-01
38 schema:description The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb in size; 278 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state. The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response. These common deletion polymorphisms typically represent ancestral mutations that are in linkage disequilibrium with nearby SNPs, meaning that their association to disease can often be evaluated in the course of SNP-based whole-genome association studies.
39 schema:genre research_article
40 schema:inLanguage en
41 schema:isAccessibleForFree false
42 schema:isPartOf N471f2628d8ed41178100f5b7e49f8d92
43 Naa83802d425147c8bfcded6185b103cc
44 sg:journal.1103138
45 schema:name Common deletion polymorphisms in the human genome
46 schema:pagination 86-92
47 schema:productId N06978af7360c4c35b22e3cbca2b1921a
48 N6ec680dc380d4c4da358554008da1ec7
49 N9105654b82a94c12858e7ef893c8ca8a
50 Na0494703344d42cda5d6a9421a760c52
51 Nc2c89098b0a145529c1b32e2cd8c5e2f
52 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002416433
53 https://doi.org/10.1038/ng1696
54 schema:sdDatePublished 2019-04-15T08:58
55 schema:sdLicense https://scigraph.springernature.com/explorer/license/
56 schema:sdPublisher N7f44db0ba1b242e5969f3ffb6ffca045
57 schema:url http://www.nature.com/articles/ng1696
58 sgo:license sg:explorer/license/
59 sgo:sdDataset articles
60 rdf:type schema:ScholarlyArticle
61 N025f15d108064f4cabd28aae88d5defd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Linkage Disequilibrium
63 rdf:type schema:DefinedTerm
64 N06978af7360c4c35b22e3cbca2b1921a schema:name doi
65 schema:value 10.1038/ng1696
66 rdf:type schema:PropertyValue
67 N0e360897866744f9ba2c2ab539014f24 rdf:first sg:person.015465505715.22
68 rdf:rest rdf:nil
69 N152aebb4a89647b5997a97fdf4faffd1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
70 schema:name Genetic Techniques
71 rdf:type schema:DefinedTerm
72 N220422958d724714abc817a5a7df1556 rdf:first sg:person.01151537314.50
73 rdf:rest Ndf99efd460684212ba99fee6dee55f01
74 N24ccfd13fd8a428a9e4ac4f9275df205 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Models, Genetic
76 rdf:type schema:DefinedTerm
77 N256c1e4915e44bf4b7013cf02ecfa1cd rdf:first sg:person.016605250747.79
78 rdf:rest N574f0dbf7b1c4e5ca5089a42766d2ac9
79 N3f642dd1ac0341e5ba231740d16e588a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
80 schema:name Polymorphism, Genetic
81 rdf:type schema:DefinedTerm
82 N471f2628d8ed41178100f5b7e49f8d92 schema:volumeNumber 38
83 rdf:type schema:PublicationVolume
84 N516aa2e3e85149c2bff2e25c90495967 rdf:first sg:person.0736420010.83
85 rdf:rest N220422958d724714abc817a5a7df1556
86 N574f0dbf7b1c4e5ca5089a42766d2ac9 rdf:first sg:person.0634355055.16
87 rdf:rest Nb4e677ca84464621a1c958971fe6169e
88 N5fc20c3c16ba428bb97a0269619f432b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Sequence Deletion
90 rdf:type schema:DefinedTerm
91 N5fdbcd723bd04f74aa52f76e39730c5a rdf:first sg:person.0772575234.33
92 rdf:rest Neee1766a13ec45c89e17cd9447763adc
93 N61a41691a606437fbf958de11d0593dc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Continental Population Groups
95 rdf:type schema:DefinedTerm
96 N6ec680dc380d4c4da358554008da1ec7 schema:name dimensions_id
97 schema:value pub.1002416433
98 rdf:type schema:PropertyValue
99 N7f44db0ba1b242e5969f3ffb6ffca045 schema:name Springer Nature - SN SciGraph project
100 rdf:type schema:Organization
101 N85688a19c6cb4718ae7986d819de9223 rdf:first sg:person.013764756044.24
102 rdf:rest N0e360897866744f9ba2c2ab539014f24
103 N87cf3af059cd480dbb49f1cd82d41b56 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Homozygote
105 rdf:type schema:DefinedTerm
106 N9105654b82a94c12858e7ef893c8ca8a schema:name readcube_id
107 schema:value 0b81303e01ac0e19ef369a087043bd1718175b5b73f21e9638159da21e2c4e26
108 rdf:type schema:PropertyValue
109 N98c6da07c54743338101942ad0d3d1c9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Genome, Human
111 rdf:type schema:DefinedTerm
112 Na0494703344d42cda5d6a9421a760c52 schema:name nlm_unique_id
113 schema:value 9216904
114 rdf:type schema:PropertyValue
115 Na68e3dffdd974676b1b373c147fb97f8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Polymorphism, Single Nucleotide
117 rdf:type schema:DefinedTerm
118 Naa83802d425147c8bfcded6185b103cc schema:issueNumber 1
119 rdf:type schema:PublicationIssue
120 Nac4b7c14314c4ac284c99dcdd773fab7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Humans
122 rdf:type schema:DefinedTerm
123 Nb4e677ca84464621a1c958971fe6169e rdf:first sg:person.012151177437.05
124 rdf:rest Ndd3673a54759469dbad0fb13eb339271
125 Nbb2820e60ffa4e98883c04c9a22b6111 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Polymerase Chain Reaction
127 rdf:type schema:DefinedTerm
128 Nc2c89098b0a145529c1b32e2cd8c5e2f schema:name pubmed_id
129 schema:value 16468122
130 rdf:type schema:PropertyValue
131 Nd215dd412289417487a0c0b6da6ee86f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Databases, Genetic
133 rdf:type schema:DefinedTerm
134 Ndd3673a54759469dbad0fb13eb339271 rdf:first sg:person.016077613317.67
135 rdf:rest Nf71821f66cb74a989a614e50404f714a
136 Ndf99efd460684212ba99fee6dee55f01 rdf:first sg:person.01365612343.07
137 rdf:rest N5fdbcd723bd04f74aa52f76e39730c5a
138 Ne45c7c2ecb864e92846647d83767680b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name In Situ Hybridization, Fluorescence
140 rdf:type schema:DefinedTerm
141 Neee1766a13ec45c89e17cd9447763adc rdf:first sg:person.0766220260.33
142 rdf:rest N256c1e4915e44bf4b7013cf02ecfa1cd
143 Nf379c2c00fd643b3962c946f2c034b8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Exons
145 rdf:type schema:DefinedTerm
146 Nf71821f66cb74a989a614e50404f714a rdf:first sg:person.011517303117.07
147 rdf:rest N85688a19c6cb4718ae7986d819de9223
148 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
149 schema:name Biological Sciences
150 rdf:type schema:DefinedTerm
151 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
152 schema:name Genetics
153 rdf:type schema:DefinedTerm
154 sg:journal.1103138 schema:issn 1061-4036
155 1546-1718
156 schema:name Nature Genetics
157 rdf:type schema:Periodical
158 sg:person.01151537314.50 schema:affiliation https://www.grid.ac/institutes/grid.32224.35
159 schema:familyName Hadnott
160 schema:givenName Tracy N
161 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151537314.50
162 rdf:type schema:Person
163 sg:person.011517303117.07 schema:affiliation https://www.grid.ac/institutes/grid.32224.35
164 schema:familyName Daly
165 schema:givenName Mark J
166 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07
167 rdf:type schema:Person
168 sg:person.012151177437.05 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
169 schema:familyName Gabriel
170 schema:givenName Stacey B
171 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012151177437.05
172 rdf:type schema:Person
173 sg:person.01365612343.07 schema:affiliation https://www.grid.ac/institutes/grid.62560.37
174 schema:familyName Perry
175 schema:givenName George H
176 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365612343.07
177 rdf:type schema:Person
178 sg:person.013764756044.24 schema:affiliation https://www.grid.ac/institutes/grid.32224.35
179 schema:familyName Altshuler
180 schema:givenName David M
181 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013764756044.24
182 rdf:type schema:Person
183 sg:person.015465505715.22 schema:familyName Consortium
184 schema:givenName The International HapMap
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015465505715.22
186 rdf:type schema:Person
187 sg:person.016077613317.67 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
188 schema:familyName Lee
189 schema:givenName Charles
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016077613317.67
191 rdf:type schema:Person
192 sg:person.016605250747.79 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
193 schema:familyName Barrett
194 schema:givenName Jeffrey C
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016605250747.79
196 rdf:type schema:Person
197 sg:person.0634355055.16 schema:affiliation https://www.grid.ac/institutes/grid.62560.37
198 schema:familyName Dallaire
199 schema:givenName Stephanie
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634355055.16
201 rdf:type schema:Person
202 sg:person.0736420010.83 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
203 schema:familyName McCarroll
204 schema:givenName Steven A
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736420010.83
206 rdf:type schema:Person
207 sg:person.0766220260.33 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
208 schema:familyName Zody
209 schema:givenName Michael C
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766220260.33
211 rdf:type schema:Person
212 sg:person.0772575234.33 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
213 schema:familyName Sabeti
214 schema:givenName Pardis C
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772575234.33
216 rdf:type schema:Person
217 sg:pub.10.1038/nature02797 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042359509
218 https://doi.org/10.1038/nature02797
219 rdf:type schema:CreativeWork
220 sg:pub.10.1038/nature04226 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017293702
221 https://doi.org/10.1038/nature04226
222 rdf:type schema:CreativeWork
223 sg:pub.10.1038/ng1416 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002767840
224 https://doi.org/10.1038/ng1416
225 rdf:type schema:CreativeWork
226 sg:pub.10.1038/ng1562 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014017119
227 https://doi.org/10.1038/ng1562
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/ng1669 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042975627
230 https://doi.org/10.1038/ng1669
231 rdf:type schema:CreativeWork
232 sg:pub.10.1038/ng1695 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032451322
233 https://doi.org/10.1038/ng1695
234 rdf:type schema:CreativeWork
235 sg:pub.10.1038/ng1697 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027902994
236 https://doi.org/10.1038/ng1697
237 rdf:type schema:CreativeWork
238 https://doi.org/10.1002/ajmg.1320140108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031698311
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1016/0092-8674(93)90058-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1031366256
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1016/j.ygeno.2004.06.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031377525
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1042/bj3000271 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016442357
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1073/pnas.85.19.7293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004568675
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1086/426461 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058714709
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1086/431652 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000963641
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1093/bioinformatics/bth457 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008081196
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1097/00008571-199806000-00006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1060289592
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1126/science.1072047 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006710139
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1126/science.1098918 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037256982
259 rdf:type schema:CreativeWork
260 https://www.grid.ac/institutes/grid.32224.35 schema:alternateName Massachusetts General Hospital
261 schema:name Center for Human Genetic Research, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.
262 Department of Medicine, Massachusetts General Hospital, Simches Research Center, 185 Cambridge St., Boston, Massachusetts 02114, USA.
263 Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.
264 Harvard Medical School, Boston, Massachusetts 02115, USA.
265 Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA.
266 rdf:type schema:Organization
267 https://www.grid.ac/institutes/grid.38142.3c schema:alternateName Harvard University
268 schema:name Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA.
269 Harvard Medical School, Boston, Massachusetts 02115, USA.
270 rdf:type schema:Organization
271 https://www.grid.ac/institutes/grid.62560.37 schema:alternateName Brigham and Women's Hospital
272 schema:name Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA.
273 rdf:type schema:Organization
274 https://www.grid.ac/institutes/grid.66859.34 schema:alternateName Broad Institute
275 schema:name Center for Human Genetic Research, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.
276 Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.
277 Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02141, USA.
278 rdf:type schema:Organization
 




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


...