Identification of rare germline copy number variations over-represented in five human cancer types View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Richard W Park, Tae-Min Kim, Simon Kasif, Peter J Park

ABSTRACT

BACKGROUND: Copy number variations (CNVs) are increasingly recognized as significant disease susceptibility markers in many complex disorders including cancer. The availability of a large number of chromosomal copy number profiles in both malignant and normal tissues in cancer patients presents an opportunity to characterize not only somatic alterations but also germline CNVs, which may confer increased risk for cancer. RESULTS: We explored the germline CNVs in five cancer cohorts from the Cancer Genome Atlas (TCGA) consisting of 351 brain, 336 breast, 342 colorectal, 370 renal, and 314 ovarian cancers, genotyped on Affymetrix SNP6.0 arrays. Comparing these to ~3000 normal controls from another study, our case-control association study revealed 39 genomic loci (9 brain, 3 breast, 4 colorectal, 11 renal, and 12 ovarian cancers) as potential candidates of tumor susceptibility loci. Many of these loci are new and in some cases are associated with a substantial increase in disease risk. The majority of the observed loci do not overlap with coding sequences; however, several observed genomic loci overlap with known cancer genes including RET in brain cancers, ERBB2 in renal cell carcinomas, and DCC in ovarian cancers, all of which have not been previously associated with germline changes in cancer. CONCLUSIONS: This large-scale genome-wide association study for CNVs across multiple cancer types identified several novel rare germline CNVs as cancer predisposing genomic loci. These loci can potentially serve as clinically useful markers conferring increased cancer risk. More... »

PAGES

25

References to SciGraph publications

  • 2008-02. Genotype, haplotype and copy-number variation in worldwide human populations in NATURE
  • 2004-05. Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-06. Copy number variation at 1q21.1 associated with neuroblastoma in NATURE
  • 2012-07. Comprehensive molecular characterization of human colon and rectal cancer in NATURE
  • 2006-08. Principal components analysis corrects for stratification in genome-wide association studies in NATURE GENETICS
  • 2011-06-29. Integrated genomic analyses of ovarian carcinoma in NATURE
  • 2011-02-03. Mapping copy number variation by population-scale genome sequencing in NATURE
  • 1997-11. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients in NATURE GENETICS
  • 2007-09. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis in GENETICS IN MEDICINE
  • 2012-01. Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations in NATURE GENETICS
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2005-09. Frequency of Familial Colon Cancer and Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in a Large Population Database in FAMILIAL CANCER
  • 2004-09. Detection of large-scale variation in the human genome in NATURE GENETICS
  • 2003-02. Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene in ONCOGENE
  • 2009-03. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants in NATURE GENETICS
  • 2013-07. Comprehensive molecular characterization of clear cell renal cell carcinoma in NATURE
  • 2011-03. Lost expression of DCC gene in ovarian cancer and its inhibition in ovarian cancer cells in MEDICAL ONCOLOGY
  • 2007-06-07. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls in NATURE
  • 2010-04. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls in NATURE
  • 2007-05. Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer in BRITISH JOURNAL OF CANCER
  • 2009-12. Copy number variations and cancer in GENOME MEDICINE
  • 2011-06. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants in NATURE BIOTECHNOLOGY
  • 1994-01. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease in NATURE
  • 2010-10-28. A map of human genome variation from population-scale sequencing in NATURE
  • 2004-08. Highly penetrant hereditary cancer syndromes in ONCOGENE
  • 2010-04. Origins and functional impact of copy number variation in the human genome in NATURE
  • 2007-05. A tumor suppressor and oncogene: the WT1 story in LEUKEMIA
  • 2004-09. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification in BRITISH JOURNAL OF CANCER
  • 2011-08. Copy number variation in glutathione-S-transferase T1 and M1 predicts incidence and 5-year survival from prostate and bladder cancer, and incidence of corpus uteri cancer in the general population in THE PHARMACOGENOMICS JOURNAL
  • 2008-10-23. Comprehensive genomic characterization defines human glioblastoma genes and core pathways in NATURE
  • 2012-02. Germline DNA copy number variation in familial and early-onset breast cancer in BREAST CANCER RESEARCH
  • 1998-12. MSH2 genomic deletions are a frequent cause of HNPCC in NATURE GENETICS
  • 1995-11. Founding mutations and Alu-mediated recombination in hereditary colon cancer in NATURE MEDICINE
  • 2012-09-23. Comprehensive molecular portraits of human breast tumours in NATURE
  • 2007-05. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations in HUMAN GENETICS
  • 2008-06. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s12943-015-0292-6

    DOI

    http://dx.doi.org/10.1186/s12943-015-0292-6

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1031366628

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25644941


    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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Case-Control Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Copy Number Variations", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome-Wide Association Study", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Risk", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Harvard University", 
              "id": "https://www.grid.ac/institutes/grid.38142.3c", 
              "name": [
                "Bioinformatics Program, Boston University, Boston, MA, USA", 
                "Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck St, 02115, Boston, MA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Park", 
            "givenName": "Richard W", 
            "id": "sg:person.01142155140.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01142155140.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Catholic University of Korea", 
              "id": "https://www.grid.ac/institutes/grid.411947.e", 
              "name": [
                "Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck St, 02115, Boston, MA, USA", 
                "Department of Medical Informatics, College of Medicine, The Catholic University of Korea, 137-701, Seoul, South Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kim", 
            "givenName": "Tae-Min", 
            "id": "sg:person.07662266304.49", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07662266304.49"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Harvard\u2013MIT Division of Health Sciences and Technology", 
              "id": "https://www.grid.ac/institutes/grid.413735.7", 
              "name": [
                "Bioinformatics Program, Boston University, Boston, MA, USA", 
                "Department of Biomedical Engineering, Boston University, Boston, MA, USA", 
                "Children\u2019s Hospital Informatics Program, Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kasif", 
            "givenName": "Simon", 
            "id": "sg:person.01153631370.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153631370.86"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Harvard\u2013MIT Division of Health Sciences and Technology", 
              "id": "https://www.grid.ac/institutes/grid.413735.7", 
              "name": [
                "Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck St, 02115, Boston, MA, USA", 
                "Children\u2019s Hospital Informatics Program, Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Park", 
            "givenName": "Peter J", 
            "id": "sg:person.01024612701.33", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024612701.33"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1016/j.cancergencyto.2008.01.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000036904"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10166", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000736346", 
              "https://doi.org/10.1038/nature10166"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(09)60249-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000811127"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1207714", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001914344", 
              "https://doi.org/10.1038/sj.onc.1207714"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1207714", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001914344", 
              "https://doi.org/10.1038/sj.onc.1207714"
            ], 
            "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": "sg:pub.10.1186/gm62", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002911260", 
              "https://doi.org/10.1186/gm62"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08979", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003788883", 
              "https://doi.org/10.1038/nature08979"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08979", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003788883", 
              "https://doi.org/10.1038/nature08979"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05911", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004556449", 
              "https://doi.org/10.1038/nature05911"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/tpj.2010.38", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005818629", 
              "https://doi.org/10.1038/tpj.2010.38"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nm1195-1203", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006123286", 
              "https://doi.org/10.1038/nm1195-1203"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nm1195-1203", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006123286", 
              "https://doi.org/10.1038/nm1195-1203"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm200007133430201", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007171562"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.20226", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009019572"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.20226", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009019572"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09534", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010608717", 
              "https://doi.org/10.1038/nature09534"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09534", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010608717", 
              "https://doi.org/10.1038/nature09534"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11252", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010619765", 
              "https://doi.org/10.1038/nature11252"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1046/j.1365-2796.1998.00330.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011175641"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1046/j.1365-2796.1998.00330.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011175641"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/3795", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011193593", 
              "https://doi.org/10.1038/3795"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/3795", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011193593", 
              "https://doi.org/10.1038/3795"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1046/j.1464-410x.1996.01749.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012029576"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0053850", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013125793"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08035", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014011076", 
              "https://doi.org/10.1038/nature08035"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08035", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014011076", 
              "https://doi.org/10.1038/nature08035"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1053/j.gastro.2009.11.044", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014315049"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.6861907", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016380326"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.148", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018520629", 
              "https://doi.org/10.1038/ng.148"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201155", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018737881", 
              "https://doi.org/10.1038/sj.ejhg.5201155"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201155", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018737881", 
              "https://doi.org/10.1038/sj.ejhg.5201155"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3322/caac.20138", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020626779"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.bjc.6603754", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021822485", 
              "https://doi.org/10.1038/sj.bjc.6603754"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1084/jem.20111855", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022641723"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.leu.2404624", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023765891", 
              "https://doi.org/10.1038/sj.leu.2404624"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11412", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024942368", 
              "https://doi.org/10.1038/nature11412"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gad.1941710", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025217201"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0013665", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025475794"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.3677206", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025890738"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1852", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026037539", 
              "https://doi.org/10.1038/nbt.1852"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12032-009-9400-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026584623", 
              "https://doi.org/10.1007/s12032-009-9400-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.bjc.6602121", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026681560", 
              "https://doi.org/10.1038/sj.bjc.6602121"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.bjc.6602121", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026681560", 
              "https://doi.org/10.1038/sj.bjc.6602121"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.20724", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027906544"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.20724", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027906544"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.maturitas.2004.06.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027969160"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1006/excr.1995.1067", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028718131"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2007.12.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029030845"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddg120", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029078828"
            ], 
            "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": "sg:pub.10.1038/ng.1020", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032685404", 
              "https://doi.org/10.1038/ng.1020"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-006-0308-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033440485", 
              "https://doi.org/10.1007/s00439-006-0308-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-006-0308-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033440485", 
              "https://doi.org/10.1007/s00439-006-0308-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-006-0308-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033440485", 
              "https://doi.org/10.1007/s00439-006-0308-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09708", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034732435", 
              "https://doi.org/10.1038/nature09708"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1098918", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037256982"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.critrevonc.2008.06.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037363022"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.20122", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037368479"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1197-341", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037669803", 
              "https://doi.org/10.1038/ng1197-341"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature06742", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037825612", 
              "https://doi.org/10.1038/nature06742"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/367377a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038079474", 
              "https://doi.org/10.1038/367377a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07385", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039570773", 
              "https://doi.org/10.1038/nature07385"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2008.060152", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039686280"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.40.8.597", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040251404"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1146/annurev.genom.9.081307.164217", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040316789"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10689-005-0657-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041553520", 
              "https://doi.org/10.1007/s10689-005-0657-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10689-005-0657-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041553520", 
              "https://doi.org/10.1007/s10689-005-0657-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2009.01342.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042641446"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2009.01342.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042641446"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0168-9525(01)02420-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043486349"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejmra0708126", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043717119"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0030063", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045023132"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0030063", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045023132"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/0008-5472.can-08-3151", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047098624"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1159/000106437", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047776670"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/bts239", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048157696"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.327", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050004376", 
              "https://doi.org/10.1038/ng.327"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.327", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050004376", 
              "https://doi.org/10.1038/ng.327"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/bcr3109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050236947", 
              "https://doi.org/10.1186/bcr3109"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12222", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050842404", 
              "https://doi.org/10.1038/nature12222"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e318149e1e3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051526863", 
              "https://doi.org/10.1097/gim.0b013e318149e1e3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e318149e1e3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051526863", 
              "https://doi.org/10.1097/gim.0b013e318149e1e3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1206155", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052337914", 
              "https://doi.org/10.1038/sj.onc.1206155"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1206155", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052337914", 
              "https://doi.org/10.1038/sj.onc.1206155"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08516", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052442014", 
              "https://doi.org/10.1038/nature08516"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08516", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052442014", 
              "https://doi.org/10.1038/nature08516"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05329", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925490", 
              "https://doi.org/10.1038/nature05329"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05329", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925490", 
              "https://doi.org/10.1038/nature05329"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05329", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925490", 
              "https://doi.org/10.1038/nature05329"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/2.7.879", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059644518"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1082939813", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5144/0256-4947.2003.422", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085509335"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2015-12", 
        "datePublishedReg": "2015-12-01", 
        "description": "BACKGROUND: Copy number variations (CNVs) are increasingly recognized as significant disease susceptibility markers in many complex disorders including cancer. The availability of a large number of chromosomal copy number profiles in both malignant and normal tissues in cancer patients presents an opportunity to characterize not only somatic alterations but also germline CNVs, which may confer increased risk for cancer.\nRESULTS: We explored the germline CNVs in five cancer cohorts from the Cancer Genome Atlas (TCGA) consisting of 351 brain, 336 breast, 342 colorectal, 370 renal, and 314 ovarian cancers, genotyped on Affymetrix SNP6.0 arrays. Comparing these to ~3000 normal controls from another study, our case-control association study revealed 39 genomic loci (9 brain, 3 breast, 4 colorectal, 11 renal, and 12 ovarian cancers) as potential candidates of tumor susceptibility loci. Many of these loci are new and in some cases are associated with a substantial increase in disease risk. The majority of the observed loci do not overlap with coding sequences; however, several observed genomic loci overlap with known cancer genes including RET in brain cancers, ERBB2 in renal cell carcinomas, and DCC in ovarian cancers, all of which have not been previously associated with germline changes in cancer.\nCONCLUSIONS: This large-scale genome-wide association study for CNVs across multiple cancer types identified several novel rare germline CNVs as cancer predisposing genomic loci. These loci can potentially serve as clinically useful markers conferring increased cancer risk.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/s12943-015-0292-6", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2699416", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2541404", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2519756", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1031030", 
            "issn": [
              "1476-4598"
            ], 
            "name": "Molecular Cancer", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "14"
          }
        ], 
        "name": "Identification of rare germline copy number variations over-represented in five human cancer types", 
        "pagination": "25", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "956cc410f9ecb363e992676ab2b4f80e33e707432b14bd2601a84aecca2079d5"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "25644941"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "101147698"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/s12943-015-0292-6"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1031366628"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/s12943-015-0292-6", 
          "https://app.dimensions.ai/details/publication/pub.1031366628"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T13:08", 
        "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/v90/0000000367_0000000367/records_88230_00000000.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186%2Fs12943-015-0292-6"
      }
    ]
     

    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.10.1186/s12943-015-0292-6'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12943-015-0292-6'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12943-015-0292-6'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12943-015-0292-6'


     

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

    398 TRIPLES      21 PREDICATES      111 URIs      32 LITERALS      20 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/s12943-015-0292-6 schema:about N1b6c86f5a00a47a09608c2b9e3c61f28
    2 N4a5cd4c9aff24093ab4d4b1ed3a71a7e
    3 N60a781d1ad1b4c65912f5aca294e737c
    4 N78c48deb1d9f48ec93ffaa09c8fd8b2b
    5 N832729235ca24e2b89314893b47300c4
    6 N851478618f5847a289e62627bc11c9a6
    7 N87121971f3cc4b81a37ca02d717010ec
    8 N88fd577fe5034b1da9fa40483b268731
    9 Nbc6acbde644c444a95856232fbfd22c9
    10 Nd47ff27933374e7cbfb9215ddf7b93cd
    11 Nfed49f850dba461b9e65664a887eb1a5
    12 anzsrc-for:11
    13 anzsrc-for:1112
    14 schema:author Nc2440df008094db89eb85f7522563077
    15 schema:citation sg:pub.10.1007/s00439-006-0308-9
    16 sg:pub.10.1007/s10689-005-0657-x
    17 sg:pub.10.1007/s12032-009-9400-z
    18 sg:pub.10.1038/367377a0
    19 sg:pub.10.1038/3795
    20 sg:pub.10.1038/nature05329
    21 sg:pub.10.1038/nature05911
    22 sg:pub.10.1038/nature06742
    23 sg:pub.10.1038/nature07385
    24 sg:pub.10.1038/nature08035
    25 sg:pub.10.1038/nature08516
    26 sg:pub.10.1038/nature08979
    27 sg:pub.10.1038/nature09534
    28 sg:pub.10.1038/nature09708
    29 sg:pub.10.1038/nature10166
    30 sg:pub.10.1038/nature11252
    31 sg:pub.10.1038/nature11412
    32 sg:pub.10.1038/nature12222
    33 sg:pub.10.1038/nbt.1852
    34 sg:pub.10.1038/ng.1020
    35 sg:pub.10.1038/ng.148
    36 sg:pub.10.1038/ng.327
    37 sg:pub.10.1038/ng1197-341
    38 sg:pub.10.1038/ng1416
    39 sg:pub.10.1038/ng1847
    40 sg:pub.10.1038/nm1195-1203
    41 sg:pub.10.1038/sj.bjc.6602121
    42 sg:pub.10.1038/sj.bjc.6603754
    43 sg:pub.10.1038/sj.ejhg.5201155
    44 sg:pub.10.1038/sj.leu.2404624
    45 sg:pub.10.1038/sj.onc.1206155
    46 sg:pub.10.1038/sj.onc.1207714
    47 sg:pub.10.1038/tpj.2010.38
    48 sg:pub.10.1097/gim.0b013e318149e1e3
    49 sg:pub.10.1186/bcr3109
    50 sg:pub.10.1186/gm62
    51 https://app.dimensions.ai/details/publication/pub.1082939813
    52 https://doi.org/10.1002/gcc.20226
    53 https://doi.org/10.1002/gcc.20724
    54 https://doi.org/10.1002/humu.20122
    55 https://doi.org/10.1006/excr.1995.1067
    56 https://doi.org/10.1016/j.ajhg.2007.12.010
    57 https://doi.org/10.1016/j.cancergencyto.2008.01.010
    58 https://doi.org/10.1016/j.critrevonc.2008.06.003
    59 https://doi.org/10.1016/j.maturitas.2004.06.005
    60 https://doi.org/10.1016/s0140-6736(09)60249-x
    61 https://doi.org/10.1016/s0168-9525(01)02420-9
    62 https://doi.org/10.1046/j.1365-2796.1998.00330.x
    63 https://doi.org/10.1046/j.1464-410x.1996.01749.x
    64 https://doi.org/10.1053/j.gastro.2009.11.044
    65 https://doi.org/10.1056/nejm200007133430201
    66 https://doi.org/10.1056/nejmra0708126
    67 https://doi.org/10.1084/jem.20111855
    68 https://doi.org/10.1093/bioinformatics/bts239
    69 https://doi.org/10.1093/hmg/2.7.879
    70 https://doi.org/10.1093/hmg/ddg120
    71 https://doi.org/10.1101/gad.1941710
    72 https://doi.org/10.1101/gr.3677206
    73 https://doi.org/10.1101/gr.6861907
    74 https://doi.org/10.1111/j.1399-0004.2009.01342.x
    75 https://doi.org/10.1126/science.1098918
    76 https://doi.org/10.1136/jmg.2008.060152
    77 https://doi.org/10.1136/jmg.40.8.597
    78 https://doi.org/10.1146/annurev.genom.9.081307.164217
    79 https://doi.org/10.1158/0008-5472.can-08-3151
    80 https://doi.org/10.1159/000106437
    81 https://doi.org/10.1371/journal.pgen.0030063
    82 https://doi.org/10.1371/journal.pone.0013665
    83 https://doi.org/10.1371/journal.pone.0053850
    84 https://doi.org/10.3322/caac.20138
    85 https://doi.org/10.5144/0256-4947.2003.422
    86 schema:datePublished 2015-12
    87 schema:datePublishedReg 2015-12-01
    88 schema:description BACKGROUND: Copy number variations (CNVs) are increasingly recognized as significant disease susceptibility markers in many complex disorders including cancer. The availability of a large number of chromosomal copy number profiles in both malignant and normal tissues in cancer patients presents an opportunity to characterize not only somatic alterations but also germline CNVs, which may confer increased risk for cancer. RESULTS: We explored the germline CNVs in five cancer cohorts from the Cancer Genome Atlas (TCGA) consisting of 351 brain, 336 breast, 342 colorectal, 370 renal, and 314 ovarian cancers, genotyped on Affymetrix SNP6.0 arrays. Comparing these to ~3000 normal controls from another study, our case-control association study revealed 39 genomic loci (9 brain, 3 breast, 4 colorectal, 11 renal, and 12 ovarian cancers) as potential candidates of tumor susceptibility loci. Many of these loci are new and in some cases are associated with a substantial increase in disease risk. The majority of the observed loci do not overlap with coding sequences; however, several observed genomic loci overlap with known cancer genes including RET in brain cancers, ERBB2 in renal cell carcinomas, and DCC in ovarian cancers, all of which have not been previously associated with germline changes in cancer. CONCLUSIONS: This large-scale genome-wide association study for CNVs across multiple cancer types identified several novel rare germline CNVs as cancer predisposing genomic loci. These loci can potentially serve as clinically useful markers conferring increased cancer risk.
    89 schema:genre research_article
    90 schema:inLanguage en
    91 schema:isAccessibleForFree true
    92 schema:isPartOf N13944fe5ba0947a08925fbf9f038455b
    93 Na18cdee4322640099428e825eb5cd4b7
    94 sg:journal.1031030
    95 schema:name Identification of rare germline copy number variations over-represented in five human cancer types
    96 schema:pagination 25
    97 schema:productId N05f995218028424aa3116f442c953911
    98 N2b3f1296df5542f385a254f0100a895b
    99 N76d98833a1804399a09559c7bd06627f
    100 N9a2ca3b4555d4f19af29965c6487846d
    101 Nc55c4565ad2c4054a3069151027c1771
    102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031366628
    103 https://doi.org/10.1186/s12943-015-0292-6
    104 schema:sdDatePublished 2019-04-11T13:08
    105 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    106 schema:sdPublisher N4147c44bb64d488d8bc980d624e1f9d8
    107 schema:url http://link.springer.com/10.1186%2Fs12943-015-0292-6
    108 sgo:license sg:explorer/license/
    109 sgo:sdDataset articles
    110 rdf:type schema:ScholarlyArticle
    111 N05f995218028424aa3116f442c953911 schema:name nlm_unique_id
    112 schema:value 101147698
    113 rdf:type schema:PropertyValue
    114 N13944fe5ba0947a08925fbf9f038455b schema:issueNumber 1
    115 rdf:type schema:PublicationIssue
    116 N1b6c86f5a00a47a09608c2b9e3c61f28 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    117 schema:name Genetic Predisposition to Disease
    118 rdf:type schema:DefinedTerm
    119 N2b3f1296df5542f385a254f0100a895b schema:name dimensions_id
    120 schema:value pub.1031366628
    121 rdf:type schema:PropertyValue
    122 N3c826ef6cbe44cc9b99bd6b7d5d37f5c rdf:first sg:person.01024612701.33
    123 rdf:rest rdf:nil
    124 N4147c44bb64d488d8bc980d624e1f9d8 schema:name Springer Nature - SN SciGraph project
    125 rdf:type schema:Organization
    126 N4a5cd4c9aff24093ab4d4b1ed3a71a7e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    127 schema:name Case-Control Studies
    128 rdf:type schema:DefinedTerm
    129 N60a781d1ad1b4c65912f5aca294e737c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Genome-Wide Association Study
    131 rdf:type schema:DefinedTerm
    132 N76d98833a1804399a09559c7bd06627f schema:name doi
    133 schema:value 10.1186/s12943-015-0292-6
    134 rdf:type schema:PropertyValue
    135 N7700f7381dec45078c83c690f6a1126e rdf:first sg:person.01153631370.86
    136 rdf:rest N3c826ef6cbe44cc9b99bd6b7d5d37f5c
    137 N78c48deb1d9f48ec93ffaa09c8fd8b2b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    138 schema:name Female
    139 rdf:type schema:DefinedTerm
    140 N832729235ca24e2b89314893b47300c4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    141 schema:name Risk
    142 rdf:type schema:DefinedTerm
    143 N851478618f5847a289e62627bc11c9a6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    144 schema:name Polymorphism, Single Nucleotide
    145 rdf:type schema:DefinedTerm
    146 N87121971f3cc4b81a37ca02d717010ec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name DNA Copy Number Variations
    148 rdf:type schema:DefinedTerm
    149 N88fd577fe5034b1da9fa40483b268731 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Neoplasms
    151 rdf:type schema:DefinedTerm
    152 N9a2ca3b4555d4f19af29965c6487846d schema:name pubmed_id
    153 schema:value 25644941
    154 rdf:type schema:PropertyValue
    155 Na18cdee4322640099428e825eb5cd4b7 schema:volumeNumber 14
    156 rdf:type schema:PublicationVolume
    157 Nbc6acbde644c444a95856232fbfd22c9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    158 schema:name Humans
    159 rdf:type schema:DefinedTerm
    160 Nc2440df008094db89eb85f7522563077 rdf:first sg:person.01142155140.82
    161 rdf:rest Ndbff2a719c7a484893c03a371e65dcec
    162 Nc55c4565ad2c4054a3069151027c1771 schema:name readcube_id
    163 schema:value 956cc410f9ecb363e992676ab2b4f80e33e707432b14bd2601a84aecca2079d5
    164 rdf:type schema:PropertyValue
    165 Nd47ff27933374e7cbfb9215ddf7b93cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    166 schema:name Male
    167 rdf:type schema:DefinedTerm
    168 Ndbff2a719c7a484893c03a371e65dcec rdf:first sg:person.07662266304.49
    169 rdf:rest N7700f7381dec45078c83c690f6a1126e
    170 Nfed49f850dba461b9e65664a887eb1a5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    171 schema:name Genotype
    172 rdf:type schema:DefinedTerm
    173 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    174 schema:name Medical and Health Sciences
    175 rdf:type schema:DefinedTerm
    176 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
    177 schema:name Oncology and Carcinogenesis
    178 rdf:type schema:DefinedTerm
    179 sg:grant.2519756 http://pending.schema.org/fundedItem sg:pub.10.1186/s12943-015-0292-6
    180 rdf:type schema:MonetaryGrant
    181 sg:grant.2541404 http://pending.schema.org/fundedItem sg:pub.10.1186/s12943-015-0292-6
    182 rdf:type schema:MonetaryGrant
    183 sg:grant.2699416 http://pending.schema.org/fundedItem sg:pub.10.1186/s12943-015-0292-6
    184 rdf:type schema:MonetaryGrant
    185 sg:journal.1031030 schema:issn 1476-4598
    186 schema:name Molecular Cancer
    187 rdf:type schema:Periodical
    188 sg:person.01024612701.33 schema:affiliation https://www.grid.ac/institutes/grid.413735.7
    189 schema:familyName Park
    190 schema:givenName Peter J
    191 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024612701.33
    192 rdf:type schema:Person
    193 sg:person.01142155140.82 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
    194 schema:familyName Park
    195 schema:givenName Richard W
    196 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01142155140.82
    197 rdf:type schema:Person
    198 sg:person.01153631370.86 schema:affiliation https://www.grid.ac/institutes/grid.413735.7
    199 schema:familyName Kasif
    200 schema:givenName Simon
    201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153631370.86
    202 rdf:type schema:Person
    203 sg:person.07662266304.49 schema:affiliation https://www.grid.ac/institutes/grid.411947.e
    204 schema:familyName Kim
    205 schema:givenName Tae-Min
    206 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07662266304.49
    207 rdf:type schema:Person
    208 sg:pub.10.1007/s00439-006-0308-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033440485
    209 https://doi.org/10.1007/s00439-006-0308-9
    210 rdf:type schema:CreativeWork
    211 sg:pub.10.1007/s10689-005-0657-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1041553520
    212 https://doi.org/10.1007/s10689-005-0657-x
    213 rdf:type schema:CreativeWork
    214 sg:pub.10.1007/s12032-009-9400-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1026584623
    215 https://doi.org/10.1007/s12032-009-9400-z
    216 rdf:type schema:CreativeWork
    217 sg:pub.10.1038/367377a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038079474
    218 https://doi.org/10.1038/367377a0
    219 rdf:type schema:CreativeWork
    220 sg:pub.10.1038/3795 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011193593
    221 https://doi.org/10.1038/3795
    222 rdf:type schema:CreativeWork
    223 sg:pub.10.1038/nature05329 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052925490
    224 https://doi.org/10.1038/nature05329
    225 rdf:type schema:CreativeWork
    226 sg:pub.10.1038/nature05911 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004556449
    227 https://doi.org/10.1038/nature05911
    228 rdf:type schema:CreativeWork
    229 sg:pub.10.1038/nature06742 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037825612
    230 https://doi.org/10.1038/nature06742
    231 rdf:type schema:CreativeWork
    232 sg:pub.10.1038/nature07385 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039570773
    233 https://doi.org/10.1038/nature07385
    234 rdf:type schema:CreativeWork
    235 sg:pub.10.1038/nature08035 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014011076
    236 https://doi.org/10.1038/nature08035
    237 rdf:type schema:CreativeWork
    238 sg:pub.10.1038/nature08516 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052442014
    239 https://doi.org/10.1038/nature08516
    240 rdf:type schema:CreativeWork
    241 sg:pub.10.1038/nature08979 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003788883
    242 https://doi.org/10.1038/nature08979
    243 rdf:type schema:CreativeWork
    244 sg:pub.10.1038/nature09534 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010608717
    245 https://doi.org/10.1038/nature09534
    246 rdf:type schema:CreativeWork
    247 sg:pub.10.1038/nature09708 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034732435
    248 https://doi.org/10.1038/nature09708
    249 rdf:type schema:CreativeWork
    250 sg:pub.10.1038/nature10166 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000736346
    251 https://doi.org/10.1038/nature10166
    252 rdf:type schema:CreativeWork
    253 sg:pub.10.1038/nature11252 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010619765
    254 https://doi.org/10.1038/nature11252
    255 rdf:type schema:CreativeWork
    256 sg:pub.10.1038/nature11412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024942368
    257 https://doi.org/10.1038/nature11412
    258 rdf:type schema:CreativeWork
    259 sg:pub.10.1038/nature12222 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050842404
    260 https://doi.org/10.1038/nature12222
    261 rdf:type schema:CreativeWork
    262 sg:pub.10.1038/nbt.1852 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026037539
    263 https://doi.org/10.1038/nbt.1852
    264 rdf:type schema:CreativeWork
    265 sg:pub.10.1038/ng.1020 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032685404
    266 https://doi.org/10.1038/ng.1020
    267 rdf:type schema:CreativeWork
    268 sg:pub.10.1038/ng.148 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018520629
    269 https://doi.org/10.1038/ng.148
    270 rdf:type schema:CreativeWork
    271 sg:pub.10.1038/ng.327 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050004376
    272 https://doi.org/10.1038/ng.327
    273 rdf:type schema:CreativeWork
    274 sg:pub.10.1038/ng1197-341 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037669803
    275 https://doi.org/10.1038/ng1197-341
    276 rdf:type schema:CreativeWork
    277 sg:pub.10.1038/ng1416 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002767840
    278 https://doi.org/10.1038/ng1416
    279 rdf:type schema:CreativeWork
    280 sg:pub.10.1038/ng1847 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031429813
    281 https://doi.org/10.1038/ng1847
    282 rdf:type schema:CreativeWork
    283 sg:pub.10.1038/nm1195-1203 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006123286
    284 https://doi.org/10.1038/nm1195-1203
    285 rdf:type schema:CreativeWork
    286 sg:pub.10.1038/sj.bjc.6602121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026681560
    287 https://doi.org/10.1038/sj.bjc.6602121
    288 rdf:type schema:CreativeWork
    289 sg:pub.10.1038/sj.bjc.6603754 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021822485
    290 https://doi.org/10.1038/sj.bjc.6603754
    291 rdf:type schema:CreativeWork
    292 sg:pub.10.1038/sj.ejhg.5201155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018737881
    293 https://doi.org/10.1038/sj.ejhg.5201155
    294 rdf:type schema:CreativeWork
    295 sg:pub.10.1038/sj.leu.2404624 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023765891
    296 https://doi.org/10.1038/sj.leu.2404624
    297 rdf:type schema:CreativeWork
    298 sg:pub.10.1038/sj.onc.1206155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052337914
    299 https://doi.org/10.1038/sj.onc.1206155
    300 rdf:type schema:CreativeWork
    301 sg:pub.10.1038/sj.onc.1207714 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001914344
    302 https://doi.org/10.1038/sj.onc.1207714
    303 rdf:type schema:CreativeWork
    304 sg:pub.10.1038/tpj.2010.38 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005818629
    305 https://doi.org/10.1038/tpj.2010.38
    306 rdf:type schema:CreativeWork
    307 sg:pub.10.1097/gim.0b013e318149e1e3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051526863
    308 https://doi.org/10.1097/gim.0b013e318149e1e3
    309 rdf:type schema:CreativeWork
    310 sg:pub.10.1186/bcr3109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050236947
    311 https://doi.org/10.1186/bcr3109
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1186/gm62 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002911260
    314 https://doi.org/10.1186/gm62
    315 rdf:type schema:CreativeWork
    316 https://app.dimensions.ai/details/publication/pub.1082939813 schema:CreativeWork
    317 https://doi.org/10.1002/gcc.20226 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009019572
    318 rdf:type schema:CreativeWork
    319 https://doi.org/10.1002/gcc.20724 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027906544
    320 rdf:type schema:CreativeWork
    321 https://doi.org/10.1002/humu.20122 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037368479
    322 rdf:type schema:CreativeWork
    323 https://doi.org/10.1006/excr.1995.1067 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028718131
    324 rdf:type schema:CreativeWork
    325 https://doi.org/10.1016/j.ajhg.2007.12.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029030845
    326 rdf:type schema:CreativeWork
    327 https://doi.org/10.1016/j.cancergencyto.2008.01.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000036904
    328 rdf:type schema:CreativeWork
    329 https://doi.org/10.1016/j.critrevonc.2008.06.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037363022
    330 rdf:type schema:CreativeWork
    331 https://doi.org/10.1016/j.maturitas.2004.06.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027969160
    332 rdf:type schema:CreativeWork
    333 https://doi.org/10.1016/s0140-6736(09)60249-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1000811127
    334 rdf:type schema:CreativeWork
    335 https://doi.org/10.1016/s0168-9525(01)02420-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043486349
    336 rdf:type schema:CreativeWork
    337 https://doi.org/10.1046/j.1365-2796.1998.00330.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1011175641
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1046/j.1464-410x.1996.01749.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1012029576
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1053/j.gastro.2009.11.044 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014315049
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1056/nejm200007133430201 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007171562
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1056/nejmra0708126 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043717119
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1084/jem.20111855 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022641723
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1093/bioinformatics/bts239 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048157696
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1093/hmg/2.7.879 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059644518
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1093/hmg/ddg120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029078828
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1101/gad.1941710 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025217201
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1101/gr.3677206 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025890738
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1101/gr.6861907 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016380326
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1111/j.1399-0004.2009.01342.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1042641446
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1126/science.1098918 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037256982
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1136/jmg.2008.060152 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039686280
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1136/jmg.40.8.597 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040251404
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1146/annurev.genom.9.081307.164217 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040316789
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1158/0008-5472.can-08-3151 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047098624
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1159/000106437 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047776670
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1371/journal.pgen.0030063 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045023132
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1371/journal.pone.0013665 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025475794
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1371/journal.pone.0053850 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013125793
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.3322/caac.20138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020626779
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.5144/0256-4947.2003.422 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085509335
    384 rdf:type schema:CreativeWork
    385 https://www.grid.ac/institutes/grid.38142.3c schema:alternateName Harvard University
    386 schema:name Bioinformatics Program, Boston University, Boston, MA, USA
    387 Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck St, 02115, Boston, MA, USA
    388 rdf:type schema:Organization
    389 https://www.grid.ac/institutes/grid.411947.e schema:alternateName Catholic University of Korea
    390 schema:name Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck St, 02115, Boston, MA, USA
    391 Department of Medical Informatics, College of Medicine, The Catholic University of Korea, 137-701, Seoul, South Korea
    392 rdf:type schema:Organization
    393 https://www.grid.ac/institutes/grid.413735.7 schema:alternateName Harvard–MIT Division of Health Sciences and Technology
    394 schema:name Bioinformatics Program, Boston University, Boston, MA, USA
    395 Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck St, 02115, Boston, MA, USA
    396 Children’s Hospital Informatics Program, Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA
    397 Department of Biomedical Engineering, Boston University, Boston, MA, USA
    398 rdf:type schema:Organization
     




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


    ...