Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-05

AUTHORS

Mykyta Artomov, Vijai Joseph, Grace Tiao, Tinu Thomas, Kasmintan Schrader, Robert J. Klein, Adam Kiezun, Namrata Gupta, Lauren Margolin, Alexander J. Stratigos, Ivana Kim, Kristen Shannon, Leif W. Ellisen, Daniel Haber, Gad Getz, Hensin Tsao, Steven M. Lipkin, David Altshuler, Kenneth Offit, Mark J. Daly

ABSTRACT

Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress made in analysis of common variation with GWAS methodology does not provide sufficient resolution to understand rare variation. To fulfill missing classification for rare germline variation we assembled dataset of whole exome sequences from>2000 patients (selected cases tested negative for candidate genes and unselected cases) with different types of cancers (breast cancer, colon cancer, and cutaneous and ocular melanomas) matched to more than 7000 non-cancer controls and analyzed germline variation in known cancer predisposing genes to identify common properties of disease-associated DNA variation and aid the future searches for new cancer susceptibility genes. Cancer predisposing genes were divided into non-overlapping classes according to the mode of inheritance of the related cancer syndrome or known tumor suppressor activity. Out of all classes only genes linked to dominant syndromes presented significant rare germline variants enrichment in cases. Separate analysis of protein-truncating and missense variation in this list of genes confirmed significant prevalence of protein-truncating variants in cases only in loss-of-function tolerant genes (pLI < 0.1), while ultra-rare missense variants were significantly overrepresented in cases only in constrained genes (pLI > 0.9). In addition to findings in genetically enriched cases, we observed significant burden of rare variation in unselected cases, suggesting substantial role of inherited variation even in relatively late cancer manifestation. Taken together, our findings provide reference for distribution and types of DNA variation underlying inherited predisposition to some common cancer types. More... »

PAGES

1-5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-019-0346-0

DOI

http://dx.doi.org/10.1038/s41431-019-0346-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111917330

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30718883


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/2008/1112", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Oncology and Carcinogenesis", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Analytic and Translational Genetics Unit, MGH, Boston, MA, USA", 
            "Broad Institute, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Artomov", 
        "givenName": "Mykyta", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Memorial Sloan Kettering Cancer Center", 
          "id": "https://www.grid.ac/institutes/grid.51462.34", 
          "name": [
            "Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Joseph", 
        "givenName": "Vijai", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Analytic and Translational Genetics Unit, MGH, Boston, MA, USA", 
            "Broad Institute, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tiao", 
        "givenName": "Grace", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Memorial Sloan Kettering Cancer Center", 
          "id": "https://www.grid.ac/institutes/grid.51462.34", 
          "name": [
            "Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thomas", 
        "givenName": "Tinu", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Memorial Sloan Kettering Cancer Center", 
          "id": "https://www.grid.ac/institutes/grid.51462.34", 
          "name": [
            "Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schrader", 
        "givenName": "Kasmintan", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Memorial Sloan Kettering Cancer Center", 
          "id": "https://www.grid.ac/institutes/grid.51462.34", 
          "name": [
            "Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Klein", 
        "givenName": "Robert J.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Broad Institute, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kiezun", 
        "givenName": "Adam", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Broad Institute, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gupta", 
        "givenName": "Namrata", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Broad Institute, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Margolin", 
        "givenName": "Lauren", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Andreas Sygros Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413183.c", 
          "name": [
            "Department of Dermatology-Venereology, National and Kapodistrian University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stratigos", 
        "givenName": "Alexander J.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts Eye and Ear Infirmary", 
          "id": "https://www.grid.ac/institutes/grid.39479.30", 
          "name": [
            "Retina Service, Massachusetts Eye and Ear Infirmary, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kim", 
        "givenName": "Ivana", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Massachusetts General Hospital Cancer Center, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shannon", 
        "givenName": "Kristen", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Massachusetts General Hospital Cancer Center, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ellisen", 
        "givenName": "Leif W.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Howard Hughes Medical Institute", 
          "id": "https://www.grid.ac/institutes/grid.413575.1", 
          "name": [
            "Massachusetts General Hospital Cancer Center, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA", 
            "Howard Hughes Medical Institute, 20815, Chevy Chase, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Haber", 
        "givenName": "Daniel", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Broad Institute, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Getz", 
        "givenName": "Gad", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Department of Dermatology, Wellman Center for Photomedicine, MGH, Boston, MA, USA", 
            "Melanoma Genetics Program, MGH Cancer Center, MGH, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tsao", 
        "givenName": "Hensin", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cornell University", 
          "id": "https://www.grid.ac/institutes/grid.5386.8", 
          "name": [
            "Department of Medicine, Program in Mendelian Genetics, Weill-Cornell Medicine, New York, NY, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lipkin", 
        "givenName": "Steven M.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vertex Pharmaceuticals (United States)", 
          "id": "https://www.grid.ac/institutes/grid.422219.e", 
          "name": [
            "Broad Institute, Cambridge, MA, USA", 
            "Vertex Pharmaceuticals, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Altshuler", 
        "givenName": "David", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Memorial Sloan Kettering Cancer Center", 
          "id": "https://www.grid.ac/institutes/grid.51462.34", 
          "name": [
            "Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA", 
            "Cancer Biology and Genetics Program, Sloan Kettering Institute, New York, NY, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Offit", 
        "givenName": "Kenneth", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Analytic and Translational Genetics Unit, MGH, Boston, MA, USA", 
            "Broad Institute, Cambridge, MA, USA", 
            "Institute for Molecular Medicine, Helsinki, Finland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Daly", 
        "givenName": "Mark J.", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1056/nejmoa1508054", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004852583"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13059-016-0974-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005070991", 
          "https://doi.org/10.1186/s13059-016-0974-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13059-016-0974-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005070991", 
          "https://doi.org/10.1186/s13059-016-0974-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.806", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010244476", 
          "https://doi.org/10.1038/ng.806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/519795", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019061180"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature19057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022281897", 
          "https://doi.org/10.1038/nature19057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1847", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031429813", 
          "https://doi.org/10.1038/ng1847"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1847", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031429813", 
          "https://doi.org/10.1038/ng1847"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.107524.110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032096953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature12981", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034371978", 
          "https://doi.org/10.1038/nature12981"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp324", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038266369"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/ppo.0b013e31823e5387", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041563583"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/ppo.0b013e31823e5387", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041563583"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jnci/djx083", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084602400"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc.2017.82", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092192061", 
          "https://doi.org/10.1038/nrc.2017.82"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-05", 
    "datePublishedReg": "2019-05-01", 
    "description": "Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress made in analysis of common variation with GWAS methodology does not provide sufficient resolution to understand rare variation. To fulfill missing classification for rare germline variation we assembled dataset of whole exome sequences from>2000 patients (selected cases tested negative for candidate genes and unselected cases) with different types of cancers (breast cancer, colon cancer, and cutaneous and ocular melanomas) matched to more than 7000 non-cancer controls and analyzed germline variation in known cancer predisposing genes to identify common properties of disease-associated DNA variation and aid the future searches for new cancer susceptibility genes. Cancer predisposing genes were divided into non-overlapping classes according to the mode of inheritance of the related cancer syndrome or known tumor suppressor activity. Out of all classes only genes linked to dominant syndromes presented significant rare germline variants enrichment in cases. Separate analysis of protein-truncating and missense variation in this list of genes confirmed significant prevalence of protein-truncating variants in cases only in loss-of-function tolerant genes (pLI\u2009<\u20090.1), while ultra-rare missense variants were significantly overrepresented in cases only in constrained genes (pLI\u2009>\u20090.9). In addition to findings in genetically enriched cases, we observed significant burden of rare variation in unselected cases, suggesting substantial role of inherited variation even in relatively late cancer manifestation. Taken together, our findings provide reference for distribution and types of DNA variation underlying inherited predisposition to some common cancer types.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41431-019-0346-0", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2699326", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2438793", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2439785", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "27"
      }
    ], 
    "name": "Case\u2013control analysis identifies shared properties of rare germline variation in cancer predisposing genes", 
    "pagination": "1-5", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41431-019-0346-0"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "d7ea88e3af5f09c724a056c69fa7b64f3170d56c09cf79357ce440053a50adeb"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1111917330"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30718883"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41431-019-0346-0", 
      "https://app.dimensions.ai/details/publication/pub.1111917330"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-15T09:16", 
    "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/v90/0000000376_0000000376/records_56171_00000006.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41431-019-0346-0"
  }
]
 

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/s41431-019-0346-0'

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/s41431-019-0346-0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41431-019-0346-0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41431-019-0346-0'


 

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

263 TRIPLES      21 PREDICATES      41 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41431-019-0346-0 schema:about anzsrc-for:11
2 anzsrc-for:1112
3 schema:author N937492016fd244f79162139c05a70a78
4 schema:citation sg:pub.10.1038/nature12981
5 sg:pub.10.1038/nature19057
6 sg:pub.10.1038/ng.806
7 sg:pub.10.1038/ng1847
8 sg:pub.10.1038/nrc.2017.82
9 sg:pub.10.1186/s13059-016-0974-4
10 https://doi.org/10.1056/nejmoa1508054
11 https://doi.org/10.1086/519795
12 https://doi.org/10.1093/bioinformatics/btp324
13 https://doi.org/10.1093/jnci/djx083
14 https://doi.org/10.1097/ppo.0b013e31823e5387
15 https://doi.org/10.1101/gr.107524.110
16 schema:datePublished 2019-05
17 schema:datePublishedReg 2019-05-01
18 schema:description Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress made in analysis of common variation with GWAS methodology does not provide sufficient resolution to understand rare variation. To fulfill missing classification for rare germline variation we assembled dataset of whole exome sequences from>2000 patients (selected cases tested negative for candidate genes and unselected cases) with different types of cancers (breast cancer, colon cancer, and cutaneous and ocular melanomas) matched to more than 7000 non-cancer controls and analyzed germline variation in known cancer predisposing genes to identify common properties of disease-associated DNA variation and aid the future searches for new cancer susceptibility genes. Cancer predisposing genes were divided into non-overlapping classes according to the mode of inheritance of the related cancer syndrome or known tumor suppressor activity. Out of all classes only genes linked to dominant syndromes presented significant rare germline variants enrichment in cases. Separate analysis of protein-truncating and missense variation in this list of genes confirmed significant prevalence of protein-truncating variants in cases only in loss-of-function tolerant genes (pLI < 0.1), while ultra-rare missense variants were significantly overrepresented in cases only in constrained genes (pLI > 0.9). In addition to findings in genetically enriched cases, we observed significant burden of rare variation in unselected cases, suggesting substantial role of inherited variation even in relatively late cancer manifestation. Taken together, our findings provide reference for distribution and types of DNA variation underlying inherited predisposition to some common cancer types.
19 schema:genre research_article
20 schema:inLanguage en
21 schema:isAccessibleForFree false
22 schema:isPartOf N5ee8c809edee4a4986a6655e546988ca
23 Ncf92a9d0a94d46d4968db8ca0aaee574
24 sg:journal.1103410
25 schema:name Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes
26 schema:pagination 1-5
27 schema:productId N0c7d53cddfed4db7b45ac7c36fff25d8
28 N5770616e49b84fcb8f5ca5841b576b32
29 N74256044a5ba40e7b56a5be5923d033d
30 N8609c56e3df74fee9a51ceaee1ab3533
31 Nfab159d43d1c4a0291fa64ddaabdd993
32 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111917330
33 https://doi.org/10.1038/s41431-019-0346-0
34 schema:sdDatePublished 2019-04-15T09:16
35 schema:sdLicense https://scigraph.springernature.com/explorer/license/
36 schema:sdPublisher Nc6d1e8f3561942ea8e152967f92aede9
37 schema:url https://www.nature.com/articles/s41431-019-0346-0
38 sgo:license sg:explorer/license/
39 sgo:sdDataset articles
40 rdf:type schema:ScholarlyArticle
41 N02a04504ca524d8c90e343fc3d9d1fab rdf:first N1d17c3d981b54850a7d98ee96f625fee
42 rdf:rest N4f0607301d9148e292d0350bc07a1759
43 N047f5d6d5eb646f2b75d0c6dab08146c rdf:first N8ace5c03d7f0492289dbae48fccc0c66
44 rdf:rest Ne7ba8b8eed73453c9b3cd03ab30824d4
45 N09bc6c2eb47f4ffda01f3aefb3f7b79c schema:affiliation https://www.grid.ac/institutes/grid.5386.8
46 schema:familyName Lipkin
47 schema:givenName Steven M.
48 rdf:type schema:Person
49 N0c7d53cddfed4db7b45ac7c36fff25d8 schema:name readcube_id
50 schema:value d7ea88e3af5f09c724a056c69fa7b64f3170d56c09cf79357ce440053a50adeb
51 rdf:type schema:PropertyValue
52 N1d17c3d981b54850a7d98ee96f625fee schema:affiliation https://www.grid.ac/institutes/grid.51462.34
53 schema:familyName Joseph
54 schema:givenName Vijai
55 rdf:type schema:Person
56 N206d0bb7bd5a488e9e3764fdb1093e07 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
57 schema:familyName Daly
58 schema:givenName Mark J.
59 rdf:type schema:Person
60 N217156dd36e949bfb44a0998cba6a0e2 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
61 schema:familyName Kiezun
62 schema:givenName Adam
63 rdf:type schema:Person
64 N34c31a4e201f40658be241a954411208 rdf:first N206d0bb7bd5a488e9e3764fdb1093e07
65 rdf:rest rdf:nil
66 N37379469775247ca8251c91911a4ceb1 rdf:first N5eb98b5beb8e41e58fb3bf5d76db7107
67 rdf:rest N6a3b511f18b54e31ae37d688f32f3046
68 N430c7b00616a4a2ca4d199d0aa1675f3 schema:affiliation https://www.grid.ac/institutes/grid.51462.34
69 schema:familyName Klein
70 schema:givenName Robert J.
71 rdf:type schema:Person
72 N4916efe2a32e4a498f93595f13c70110 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
73 schema:familyName Artomov
74 schema:givenName Mykyta
75 rdf:type schema:Person
76 N499cfbd7b3c944589b0a8d14a961431f rdf:first N430c7b00616a4a2ca4d199d0aa1675f3
77 rdf:rest Nc0b58d4792ca42619da929ff7aa45ea2
78 N4f0607301d9148e292d0350bc07a1759 rdf:first N72b191606b72471ea5abc0807d9e8150
79 rdf:rest N7b091ec98f4a4b838e539e48d00a5734
80 N522d2ad33adc445bbdef38afad36e20a schema:affiliation https://www.grid.ac/institutes/grid.66859.34
81 schema:familyName Getz
82 schema:givenName Gad
83 rdf:type schema:Person
84 N5247d83ab08646b8b3a773809f8aacca rdf:first Nae0c2148b64f4009b448716172656529
85 rdf:rest Nf7a08c9e9e69486a92dd40fbee932ecd
86 N5770616e49b84fcb8f5ca5841b576b32 schema:name doi
87 schema:value 10.1038/s41431-019-0346-0
88 rdf:type schema:PropertyValue
89 N57d65e40d7dd46bf8c22c6dbc97d1185 rdf:first N522d2ad33adc445bbdef38afad36e20a
90 rdf:rest N047f5d6d5eb646f2b75d0c6dab08146c
91 N5daa12c6cd2e4e3d84068e1f8a4cc4a4 schema:affiliation https://www.grid.ac/institutes/grid.413183.c
92 schema:familyName Stratigos
93 schema:givenName Alexander J.
94 rdf:type schema:Person
95 N5eb98b5beb8e41e58fb3bf5d76db7107 schema:affiliation https://www.grid.ac/institutes/grid.422219.e
96 schema:familyName Altshuler
97 schema:givenName David
98 rdf:type schema:Person
99 N5ee8c809edee4a4986a6655e546988ca schema:volumeNumber 27
100 rdf:type schema:PublicationVolume
101 N667acca69bba4787ad484cb53505ebba rdf:first N787a3e342ab7483093b7c15e654bd5ff
102 rdf:rest Ncbe2b788f75e4f1a969610359eeb4924
103 N6a3b511f18b54e31ae37d688f32f3046 rdf:first Nea14c2ab48ce46fc83efaf90aed8d609
104 rdf:rest N34c31a4e201f40658be241a954411208
105 N72b191606b72471ea5abc0807d9e8150 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
106 schema:familyName Tiao
107 schema:givenName Grace
108 rdf:type schema:Person
109 N74256044a5ba40e7b56a5be5923d033d schema:name dimensions_id
110 schema:value pub.1111917330
111 rdf:type schema:PropertyValue
112 N787a3e342ab7483093b7c15e654bd5ff schema:affiliation https://www.grid.ac/institutes/grid.66859.34
113 schema:familyName Gupta
114 schema:givenName Namrata
115 rdf:type schema:Person
116 N78fd62871ac14a1a9e93c36e327b4aae schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
117 schema:familyName Ellisen
118 schema:givenName Leif W.
119 rdf:type schema:Person
120 N7b091ec98f4a4b838e539e48d00a5734 rdf:first N9148e44bc3d64a5889fc06354f58c784
121 rdf:rest N9a64248523504a5ea396c445570ba442
122 N8609c56e3df74fee9a51ceaee1ab3533 schema:name nlm_unique_id
123 schema:value 9302235
124 rdf:type schema:PropertyValue
125 N8ace5c03d7f0492289dbae48fccc0c66 schema:affiliation https://www.grid.ac/institutes/grid.32224.35
126 schema:familyName Tsao
127 schema:givenName Hensin
128 rdf:type schema:Person
129 N9148e44bc3d64a5889fc06354f58c784 schema:affiliation https://www.grid.ac/institutes/grid.51462.34
130 schema:familyName Thomas
131 schema:givenName Tinu
132 rdf:type schema:Person
133 N937492016fd244f79162139c05a70a78 rdf:first N4916efe2a32e4a498f93595f13c70110
134 rdf:rest N02a04504ca524d8c90e343fc3d9d1fab
135 N9a64248523504a5ea396c445570ba442 rdf:first Nf63e5a87e6434b8bb3473fd11d074931
136 rdf:rest N499cfbd7b3c944589b0a8d14a961431f
137 N9f5c1dccaaad43639d2b50fc9de93ed3 rdf:first Nadb1619a172e4f0cbd1463d5e47e62bd
138 rdf:rest N57d65e40d7dd46bf8c22c6dbc97d1185
139 Nadb1619a172e4f0cbd1463d5e47e62bd schema:affiliation https://www.grid.ac/institutes/grid.413575.1
140 schema:familyName Haber
141 schema:givenName Daniel
142 rdf:type schema:Person
143 Nae0c2148b64f4009b448716172656529 schema:affiliation https://www.grid.ac/institutes/grid.32224.35
144 schema:familyName Shannon
145 schema:givenName Kristen
146 rdf:type schema:Person
147 Nba66773613b14567b26165c7a95616bd rdf:first Nfdfca037863f43d2a87c6ae904c00eb5
148 rdf:rest N5247d83ab08646b8b3a773809f8aacca
149 Nc0b58d4792ca42619da929ff7aa45ea2 rdf:first N217156dd36e949bfb44a0998cba6a0e2
150 rdf:rest N667acca69bba4787ad484cb53505ebba
151 Nc27a7463799a42cbb8abb171d8895379 rdf:first N5daa12c6cd2e4e3d84068e1f8a4cc4a4
152 rdf:rest Nba66773613b14567b26165c7a95616bd
153 Nc6d1e8f3561942ea8e152967f92aede9 schema:name Springer Nature - SN SciGraph project
154 rdf:type schema:Organization
155 Ncbe2b788f75e4f1a969610359eeb4924 rdf:first Nf87e645bf2d9442980b97e3d6bff8e70
156 rdf:rest Nc27a7463799a42cbb8abb171d8895379
157 Ncf92a9d0a94d46d4968db8ca0aaee574 schema:issueNumber 5
158 rdf:type schema:PublicationIssue
159 Ne7ba8b8eed73453c9b3cd03ab30824d4 rdf:first N09bc6c2eb47f4ffda01f3aefb3f7b79c
160 rdf:rest N37379469775247ca8251c91911a4ceb1
161 Nea14c2ab48ce46fc83efaf90aed8d609 schema:affiliation https://www.grid.ac/institutes/grid.51462.34
162 schema:familyName Offit
163 schema:givenName Kenneth
164 rdf:type schema:Person
165 Nf63e5a87e6434b8bb3473fd11d074931 schema:affiliation https://www.grid.ac/institutes/grid.51462.34
166 schema:familyName Schrader
167 schema:givenName Kasmintan
168 rdf:type schema:Person
169 Nf7a08c9e9e69486a92dd40fbee932ecd rdf:first N78fd62871ac14a1a9e93c36e327b4aae
170 rdf:rest N9f5c1dccaaad43639d2b50fc9de93ed3
171 Nf87e645bf2d9442980b97e3d6bff8e70 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
172 schema:familyName Margolin
173 schema:givenName Lauren
174 rdf:type schema:Person
175 Nfab159d43d1c4a0291fa64ddaabdd993 schema:name pubmed_id
176 schema:value 30718883
177 rdf:type schema:PropertyValue
178 Nfdfca037863f43d2a87c6ae904c00eb5 schema:affiliation https://www.grid.ac/institutes/grid.39479.30
179 schema:familyName Kim
180 schema:givenName Ivana
181 rdf:type schema:Person
182 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
183 schema:name Medical and Health Sciences
184 rdf:type schema:DefinedTerm
185 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
186 schema:name Oncology and Carcinogenesis
187 rdf:type schema:DefinedTerm
188 sg:grant.2438793 http://pending.schema.org/fundedItem sg:pub.10.1038/s41431-019-0346-0
189 rdf:type schema:MonetaryGrant
190 sg:grant.2439785 http://pending.schema.org/fundedItem sg:pub.10.1038/s41431-019-0346-0
191 rdf:type schema:MonetaryGrant
192 sg:grant.2699326 http://pending.schema.org/fundedItem sg:pub.10.1038/s41431-019-0346-0
193 rdf:type schema:MonetaryGrant
194 sg:journal.1103410 schema:issn 1018-4813
195 1476-5438
196 schema:name European Journal of Human Genetics
197 rdf:type schema:Periodical
198 sg:pub.10.1038/nature12981 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034371978
199 https://doi.org/10.1038/nature12981
200 rdf:type schema:CreativeWork
201 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
202 https://doi.org/10.1038/nature19057
203 rdf:type schema:CreativeWork
204 sg:pub.10.1038/ng.806 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010244476
205 https://doi.org/10.1038/ng.806
206 rdf:type schema:CreativeWork
207 sg:pub.10.1038/ng1847 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031429813
208 https://doi.org/10.1038/ng1847
209 rdf:type schema:CreativeWork
210 sg:pub.10.1038/nrc.2017.82 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092192061
211 https://doi.org/10.1038/nrc.2017.82
212 rdf:type schema:CreativeWork
213 sg:pub.10.1186/s13059-016-0974-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005070991
214 https://doi.org/10.1186/s13059-016-0974-4
215 rdf:type schema:CreativeWork
216 https://doi.org/10.1056/nejmoa1508054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004852583
217 rdf:type schema:CreativeWork
218 https://doi.org/10.1086/519795 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019061180
219 rdf:type schema:CreativeWork
220 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1093/jnci/djx083 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084602400
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1097/ppo.0b013e31823e5387 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041563583
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1101/gr.107524.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032096953
227 rdf:type schema:CreativeWork
228 https://www.grid.ac/institutes/grid.32224.35 schema:alternateName Massachusetts General Hospital
229 schema:name Department of Dermatology, Wellman Center for Photomedicine, MGH, Boston, MA, USA
230 Massachusetts General Hospital Cancer Center, Boston, MA, USA
231 Melanoma Genetics Program, MGH Cancer Center, MGH, Boston, MA, USA
232 rdf:type schema:Organization
233 https://www.grid.ac/institutes/grid.38142.3c schema:alternateName Harvard University
234 schema:name Harvard Medical School, Boston, MA, USA
235 Massachusetts General Hospital Cancer Center, Boston, MA, USA
236 rdf:type schema:Organization
237 https://www.grid.ac/institutes/grid.39479.30 schema:alternateName Massachusetts Eye and Ear Infirmary
238 schema:name Retina Service, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
239 rdf:type schema:Organization
240 https://www.grid.ac/institutes/grid.413183.c schema:alternateName Andreas Sygros Hospital
241 schema:name Department of Dermatology-Venereology, National and Kapodistrian University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece
242 rdf:type schema:Organization
243 https://www.grid.ac/institutes/grid.413575.1 schema:alternateName Howard Hughes Medical Institute
244 schema:name Harvard Medical School, Boston, MA, USA
245 Howard Hughes Medical Institute, 20815, Chevy Chase, MD, USA
246 Massachusetts General Hospital Cancer Center, Boston, MA, USA
247 rdf:type schema:Organization
248 https://www.grid.ac/institutes/grid.422219.e schema:alternateName Vertex Pharmaceuticals (United States)
249 schema:name Broad Institute, Cambridge, MA, USA
250 Vertex Pharmaceuticals, Boston, MA, USA
251 rdf:type schema:Organization
252 https://www.grid.ac/institutes/grid.51462.34 schema:alternateName Memorial Sloan Kettering Cancer Center
253 schema:name Cancer Biology and Genetics Program, Sloan Kettering Institute, New York, NY, USA
254 Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
255 rdf:type schema:Organization
256 https://www.grid.ac/institutes/grid.5386.8 schema:alternateName Cornell University
257 schema:name Department of Medicine, Program in Mendelian Genetics, Weill-Cornell Medicine, New York, NY, USA
258 rdf:type schema:Organization
259 https://www.grid.ac/institutes/grid.66859.34 schema:alternateName Broad Institute
260 schema:name Analytic and Translational Genetics Unit, MGH, Boston, MA, USA
261 Broad Institute, Cambridge, MA, USA
262 Institute for Molecular Medicine, Helsinki, Finland
263 rdf:type schema:Organization
 




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


...