Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-12-16

AUTHORS

Elise Ruark, Katie Snape, Peter Humburg, Chey Loveday, Ilirjana Bajrami, Rachel Brough, Daniel Nava Rodrigues, Anthony Renwick, Sheila Seal, Emma Ramsay, Silvana Del Vecchio Duarte, Manuel A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion-Flora, Sandra Hanks, Anne Murray, Naser Ansari Pour, Jenny Douglas, Lorna Gregory, Andrew Rimmer, Neil M. Walker, Tsun-Po Yang, Julian W. Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard Houlston, Matthew A. Brown, Mark J. Caufield, Panagiotis Deloukas, Mark I. McCarthy, John A. Todd, The Breast and Ovarian Cancer Susceptibility Collaboration, Wellcome Trust Case Control Consortium, Clare Turnbull, Jorge S. Reis-Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly, Nazneen Rahman

ABSTRACT

Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and replication. Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer. PPM1D PTV mutations were present in 25 out of 7,781 cases versus 1 out of 5,861 controls (P = 1.12 × 10(-5)), including 18 mutations in 6,912 individuals with breast cancer (P = 2.42 × 10(-4)) and 12 mutations in 1,121 individuals with ovarian cancer (P = 3.10 × 10(-9)). Notably, all of the identified PPM1D PTVs were mosaic in lymphocyte DNA and clustered within a 370-base-pair region in the final exon of the gene, carboxy-terminal to the phosphatase catalytic domain. Functional studies demonstrate that the mutations result in enhanced suppression of p53 in response to ionizing radiation exposure, suggesting that the mutant alleles encode hyperactive PPM1D isoforms. Thus, although the mutations cause premature protein truncation, they do not result in the simple loss-of-function effect typically associated with this class of variant, but instead probably have a gain-of-function effect. Our results have implications for the detection and management of breast and ovarian cancer risk. More generally, these data provide new insights into the role of rare and of mosaic genetic variants in common conditions, and the use of sequencing in their identification. More... »

PAGES

406

References to SciGraph publications

  • 2010-06. Uncovering the roles of rare variants in common disease through whole-genome sequencing in NATURE REVIEWS GENETICS
  • 2006-08. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles in NATURE GENETICS
  • 2007-02. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene in NATURE GENETICS
  • 2012-07. Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer in BREAST CANCER RESEARCH AND TREATMENT
  • 2006-11. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles in NATURE GENETICS
  • 2006-07. Regulation of the antioncogenic Chk2 kinase by the oncogenic Wip1 phosphatase in CELL DEATH & DIFFERENTIATION
  • 2009-02. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing in NATURE BIOTECHNOLOGY
  • 2011-09. Germline mutations in RAD51D confer susceptibility to ovarian cancer in NATURE GENETICS
  • 2008-02. A chemical inhibitor of PPM1D that selectively kills cells overexpressing PPM1D in ONCOGENE
  • 2010-06. Genome-wide association study identifies five new breast cancer susceptibility loci in NATURE GENETICS
  • 2012-06. Detectable clonal mosaicism and its relationship to aging and cancer in NATURE GENETICS
  • 2012-05. Germline RAD51C mutations confer susceptibility to ovarian cancer in NATURE GENETICS
  • 2002-06. Amplification of PPM1D in human tumors abrogates p53 tumor-suppressor activity in NATURE GENETICS
  • 2002-05. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations in NATURE GENETICS
  • 2012-06. Detectable clonal mosaicism from birth to old age and its relationship to cancer in NATURE GENETICS
  • 2008-06. The type 2C phosphatase Wip1: An oncogenic regulator of tumor suppressor and DNA damage response pathways in CANCER AND METASTASIS REVIEWS
  • 2011-11. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease in NATURE GENETICS
  • 2010-05. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene in NATURE GENETICS
  • 2011-02-23. Preparation of Next-Generation Sequencing Libraries Using Nextera™ Technology: Simultaneous DNA Fragmentation and Adaptor Tagging by In Vitro Transposition in HIGH-THROUGHPUT NEXT GENERATION SEQUENCING
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature11725

    DOI

    http://dx.doi.org/10.1038/nature11725

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1027522882

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23242139


    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": "Alleles", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Breast Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cluster Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Exons", 
            "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": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Isoenzymes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Lymphocytes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mosaicism", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ovarian Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phosphoprotein Phosphatases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Protein Phosphatase 2C", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Tumor Suppressor Protein p53", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ruark", 
            "givenName": "Elise", 
            "id": "sg:person.01307554501.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307554501.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Snape", 
            "givenName": "Katie", 
            "id": "sg:person.0771741373.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771741373.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Centre for Human Genetics", 
              "id": "https://www.grid.ac/institutes/grid.270683.8", 
              "name": [
                "The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Humburg", 
            "givenName": "Peter", 
            "id": "sg:person.01365561632.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365561632.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Loveday", 
            "givenName": "Chey", 
            "id": "sg:person.01150442073.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150442073.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bajrami", 
            "givenName": "Ilirjana", 
            "id": "sg:person.01304562620.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304562620.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK", 
                "Cancer Research UK Gene Function Laboratory, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brough", 
            "givenName": "Rachel", 
            "id": "sg:person.01027144267.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027144267.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rodrigues", 
            "givenName": "Daniel Nava", 
            "id": "sg:person.0635517671.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635517671.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Renwick", 
            "givenName": "Anthony", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Seal", 
            "givenName": "Sheila", 
            "id": "sg:person.01315221535.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315221535.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ramsay", 
            "givenName": "Emma", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Del Vecchio Duarte", 
            "givenName": "Silvana", 
            "id": "sg:person.0671243560.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671243560.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Oxford", 
              "id": "https://www.grid.ac/institutes/grid.4991.5", 
              "name": [
                "The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK", 
                "Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7LD, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rivas", 
            "givenName": "Manuel A.", 
            "id": "sg:person.0713502665.36", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713502665.36"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Warren-Perry", 
            "givenName": "Margaret", 
            "id": "sg:person.013267434314.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013267434314.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zachariou", 
            "givenName": "Anna", 
            "id": "sg:person.0756760721.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756760721.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Campion-Flora", 
            "givenName": "Adriana", 
            "id": "sg:person.01361123771.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01361123771.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hanks", 
            "givenName": "Sandra", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Murray", 
            "givenName": "Anne", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pour", 
            "givenName": "Naser Ansari", 
            "id": "sg:person.011535504567.79", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011535504567.79"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Douglas", 
            "givenName": "Jenny", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Centre for Human Genetics", 
              "id": "https://www.grid.ac/institutes/grid.270683.8", 
              "name": [
                "The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gregory", 
            "givenName": "Lorna", 
            "id": "sg:person.01036565737.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036565737.27"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Centre for Human Genetics", 
              "id": "https://www.grid.ac/institutes/grid.270683.8", 
              "name": [
                "The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rimmer", 
            "givenName": "Andrew", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke\u2019s Hospital, Cambridge CB2 0XY, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Walker", 
            "givenName": "Neil M.", 
            "id": "sg:person.01257156522.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257156522.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Sanger Institute", 
              "id": "https://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yang", 
            "givenName": "Tsun-Po", 
            "id": "sg:person.01152465053.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152465053.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chapel Allerton Hospital", 
              "id": "https://www.grid.ac/institutes/grid.413818.7", 
              "name": [
                "Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Adlard", 
            "givenName": "Julian W.", 
            "id": "sg:person.01164737534.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164737534.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospitals of Leicester NHS Trust", 
              "id": "https://www.grid.ac/institutes/grid.269014.8", 
              "name": [
                "Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Barwell", 
            "givenName": "Julian", 
            "id": "sg:person.0575504461.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575504461.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Dundee", 
              "id": "https://www.grid.ac/institutes/grid.8241.f", 
              "name": [
                "Human Genetics, Division of Medical Sciences, University of Dundee, Dundee DD1 9SY, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Berg", 
            "givenName": "Jonathan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "NW Thames Regional Genetics Service, Kennedy Galton Centre, London HA1 3UJ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brady", 
            "givenName": "Angela F.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Royal Devon and Exeter Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416118.b", 
              "name": [
                "Peninsula Regional Genetics Service, Royal Devon & Exeter Hospital, Exeter EX1 2ED, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brewer", 
            "givenName": "Carole", 
            "id": "sg:person.01254245211.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01254245211.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St George's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.464688.0", 
              "name": [
                "SW Thames Regional Genetics Service, St George\u2019s Hospital, London SW17 0RE, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brice", 
            "givenName": "Glen", 
            "id": "sg:person.0673600732.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673600732.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Birmingham Women's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.423077.5", 
              "name": [
                "West Midlands Regional Genetics Service, Birmingham Women\u2019s Hospital, Birmingham B15 2TG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chapman", 
            "givenName": "Cyril", 
            "id": "sg:person.0776161711.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776161711.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sheffield Children's NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.419127.8", 
              "name": [
                "Sheffield Regional Genetics Service, Sheffield Children\u2019s NHS Foundation Trust, Sheffield S10 2TH, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cook", 
            "givenName": "Jackie", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Southern General Hospital", 
              "id": "https://www.grid.ac/institutes/grid.413030.5", 
              "name": [
                "West of Scotland Regional Genetics Service, Laboratory Medicine, Southern General Hospital, Glasgow G51 4TF, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Davidson", 
            "givenName": "Rosemarie", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospitals Bristol NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.410421.2", 
              "name": [
                "South Western Regional Genetics Service, University Hospitals of Bristol NHS Foundation Trust, Bristol BS2 8EG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Donaldson", 
            "givenName": "Alan", 
            "id": "sg:person.0713506151.75", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713506151.75"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Newcastle upon Tyne Hospitals NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.420004.2", 
              "name": [
                "Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle NE1 3BZ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Douglas", 
            "givenName": "Fiona", 
            "id": "sg:person.01174037241.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174037241.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eccles", 
            "givenName": "Diana", 
            "id": "sg:person.01264252651.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264252651.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St Mary's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416523.7", 
              "name": [
                "Genetic Medicine, Manchester Academic Health Science Centre, St Mary\u2019s Hospital, Manchester M13 9WL, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Evans", 
            "givenName": "D. Gareth", 
            "id": "sg:person.011135120262.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011135120262.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Liverpool Womens NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.419317.9", 
              "name": [
                "Merseyside and Cheshire Clinical Genetics Service, Liverpool Women\u2019s NHS Foundation Trust, Liverpool L8 7SS, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Greenhalgh", 
            "givenName": "Lynn", 
            "id": "sg:person.01027734551.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027734551.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Newcastle upon Tyne Hospitals NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.420004.2", 
              "name": [
                "Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle NE1 3BZ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Henderson", 
            "givenName": "Alex", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Guy's and St Thomas' NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.420545.2", 
              "name": [
                "SE Thames Regional Genetics Service, Guy\u2019s and St Thomas NHS Foundation Trust, London SE1 9RT, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Izatt", 
            "givenName": "Louise", 
            "id": "sg:person.01203157321.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203157321.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "NE Thames Regional Genetics Service, Great Ormond St Hospital, London WC1N 3JH, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kumar", 
            "givenName": "Ajith", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St Mary's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416523.7", 
              "name": [
                "University Department of Medical Genetics & Regional Genetics Service, St Mary\u2019s Hospital, Manchester M13 9WL, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lalloo", 
            "givenName": "Fiona", 
            "id": "sg:person.01026225646.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026225646.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Aberdeen Royal Infirmary", 
              "id": "https://www.grid.ac/institutes/grid.417581.e", 
              "name": [
                "University of Aberdeen and North of Scotland Clinical Genetics Service, Aberdeen Royal Infirmary, Aberdeen AB25 2ZA, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Miedzybrodzka", 
            "givenName": "Zosia", 
            "id": "sg:person.015543264761.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015543264761.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Queen's University Belfast", 
              "id": "https://www.grid.ac/institutes/grid.4777.3", 
              "name": [
                "Northern Ireland Regional Genetics Service, Belfast HSC Trust, Department of Medical Genetics, Queen\u2019s University Belfast, Belfast BT9 7AB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Morrison", 
            "givenName": "Patrick J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cambridge University Hospitals NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.24029.3d", 
              "name": [
                "East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Paterson", 
            "givenName": "Joan", 
            "id": "sg:person.0651234051.49", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651234051.49"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Western General Hospital", 
              "id": "https://www.grid.ac/institutes/grid.417068.c", 
              "name": [
                "South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Porteous", 
            "givenName": "Mary", 
            "id": "sg:person.01112743532.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112743532.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Wales", 
              "id": "https://www.grid.ac/institutes/grid.241103.5", 
              "name": [
                "All Wales Medical Genetics Service, University Hospital of Wales, Cardiff CF14 4XW, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rogers", 
            "givenName": "Mark T.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Royal Marsden NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.5072.0", 
              "name": [
                "Department of Cancer Genetics, Royal Marsden NHS Foundation Trust, Sutton SM2 5PT, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shanley", 
            "givenName": "Susan", 
            "id": "sg:person.01076766312.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076766312.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Oxford University Hospitals NHS Trust", 
              "id": "https://www.grid.ac/institutes/grid.410556.3", 
              "name": [
                "Oxford Regional Genetics Service, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Walker", 
            "givenName": "Lisa", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Royal Marsden NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.5072.0", 
              "name": [
                "Department of Gynaecologic Oncology, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gore", 
            "givenName": "Martin", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Houlston", 
            "givenName": "Richard", 
            "id": "sg:person.010115766245.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010115766245.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane 4102, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brown", 
            "givenName": "Matthew A.", 
            "id": "sg:person.014235656724.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014235656724.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Queen Mary University of London", 
              "id": "https://www.grid.ac/institutes/grid.4868.2", 
              "name": [
                "Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Caufield", 
            "givenName": "Mark J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Sanger Institute", 
              "id": "https://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Deloukas", 
            "givenName": "Panagiotis", 
            "id": "sg:person.011013226044.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011013226044.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Churchill Hospital", 
              "id": "https://www.grid.ac/institutes/grid.415719.f", 
              "name": [
                "The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK", 
                "Oxford Centre for Diabetes, Endocrinology and Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LI, UK", 
                "Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LI, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McCarthy", 
            "givenName": "Mark I.", 
            "id": "sg:person.016704245502.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016704245502.43"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke\u2019s Hospital, Cambridge CB2 0XY, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Todd", 
            "givenName": "John A.", 
            "id": "sg:person.01134314703.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134314703.76"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Collaboration", 
            "givenName": "The Breast and Ovarian Cancer Susceptibility", 
            "id": "sg:person.013130445567.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013130445567.71"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Consortium", 
            "givenName": "Wellcome Trust Case Control", 
            "id": "sg:person.012513472776.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012513472776.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Royal Marsden NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.5072.0", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK", 
                "Department of Cancer Genetics, Royal Marsden NHS Foundation Trust, Sutton SM2 5PT, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Turnbull", 
            "givenName": "Clare", 
            "id": "sg:person.01014324530.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014324530.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Reis-Filho", 
            "givenName": "Jorge S.", 
            "id": "sg:person.01045625165.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045625165.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ashworth", 
            "givenName": "Alan", 
            "id": "sg:person.01055327365.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055327365.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Antoniou", 
            "givenName": "Antonis C.", 
            "id": "sg:person.01167177047.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167177047.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Cancer Research", 
              "id": "https://www.grid.ac/institutes/grid.18886.3f", 
              "name": [
                "The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lord", 
            "givenName": "Christopher J.", 
            "id": "sg:person.01002032720.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002032720.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Oxford", 
              "id": "https://www.grid.ac/institutes/grid.4991.5", 
              "name": [
                "The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK", 
                "Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Donnelly", 
            "givenName": "Peter", 
            "id": "sg:person.01371335603.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01371335603.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Royal Marsden NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.5072.0", 
              "name": [
                "Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK", 
                "Department of Cancer Genetics, Royal Marsden NHS Foundation Trust, Sutton SM2 5PT, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rahman", 
            "givenName": "Nazneen", 
            "id": "sg:person.01056542504.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056542504.81"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1158/1078-0432.ccr-08-2403", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000676393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gepi.10261", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004067474"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.586", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006256853", 
              "https://doi.org/10.1038/ng.586"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.586", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006256853", 
              "https://doi.org/10.1038/ng.586"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gepi.1014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007274981"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.569", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010090340", 
              "https://doi.org/10.1038/ng.569"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.gde.2010.03.001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011001027"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1021/bi101949t", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011729168"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1021/bi101949t", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011729168"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng879", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012667501", 
              "https://doi.org/10.1038/ng879"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng879", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012667501", 
              "https://doi.org/10.1038/ng879"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gnf056", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013569073"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2271", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014329007", 
              "https://doi.org/10.1038/ng.2271"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1146/annurev.genom.9.081307.164339", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015964613"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1261/rna.815108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017266231"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/path.3990", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018330489"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.893", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020242362", 
              "https://doi.org/10.1038/ng.893"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gepi.1370050611", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021406587"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1959", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022261638", 
              "https://doi.org/10.1038/ng1959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1959", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022261638", 
              "https://doi.org/10.1038/ng1959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2224", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026052905", 
              "https://doi.org/10.1038/ng.2224"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gepi.21620", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030698605"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10555-008-9127-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030791778", 
              "https://doi.org/10.1007/s10555-008-9127-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10555-008-9127-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030791778", 
              "https://doi.org/10.1007/s10555-008-9127-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-012-2057-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031131308", 
              "https://doi.org/10.1007/s10549-012-2057-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.94.12.6048", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032354117"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1902", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032659958", 
              "https://doi.org/10.1038/ng1902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1902", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032659958", 
              "https://doi.org/10.1038/ng1902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1084/jem.20061563", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034017584"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp324", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038266369"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.cdd.4401801", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038926591", 
              "https://doi.org/10.1038/sj.cdd.4401801"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.cdd.4401801", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038926591", 
              "https://doi.org/10.1038/sj.cdd.4401801"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1523", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040653661", 
              "https://doi.org/10.1038/nbt.1523"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.952", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043485621", 
              "https://doi.org/10.1038/ng.952"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/1078-0432.ccr-08-1878", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045380281"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1837", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046588350", 
              "https://doi.org/10.1038/ng1837"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1837", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046588350", 
              "https://doi.org/10.1038/ng1837"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-1-61779-089-8_17", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047797280", 
              "https://doi.org/10.1007/978-1-61779-089-8_17"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-1-61779-089-8_17", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047797280", 
              "https://doi.org/10.1007/978-1-61779-089-8_17"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2270", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048576872", 
              "https://doi.org/10.1038/ng.2270"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2779", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050625874", 
              "https://doi.org/10.1038/nrg2779"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2779", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050625874", 
              "https://doi.org/10.1038/nrg2779"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng894", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050874862", 
              "https://doi.org/10.1038/ng894"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng894", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050874862", 
              "https://doi.org/10.1038/ng894"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.111120.110", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051094083"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1210729", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051124980", 
              "https://doi.org/10.1038/sj.onc.1210729"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/jb/mvn135", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059745997"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4161/cc.4.8.1876", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1072298366"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075302345", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2012-12-16", 
        "datePublishedReg": "2012-12-16", 
        "description": "Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and replication. Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer. PPM1D PTV mutations were present in 25 out of 7,781 cases versus 1 out of 5,861 controls (P = 1.12\u2009\u00d7\u200910(-5)), including 18 mutations in 6,912 individuals with breast cancer (P = 2.42\u2009\u00d7\u200910(-4)) and 12 mutations in 1,121 individuals with ovarian cancer (P = 3.10\u2009\u00d7\u200910(-9)). Notably, all of the identified PPM1D PTVs were mosaic in lymphocyte DNA and clustered within a 370-base-pair region in the final exon of the gene, carboxy-terminal to the phosphatase catalytic domain. Functional studies demonstrate that the mutations result in enhanced suppression of p53 in response to ionizing radiation exposure, suggesting that the mutant alleles encode hyperactive PPM1D isoforms. Thus, although the mutations cause premature protein truncation, they do not result in the simple loss-of-function effect typically associated with this class of variant, but instead probably have a gain-of-function effect. Our results have implications for the detection and management of breast and ovarian cancer risk. More generally, these data provide new insights into the role of rare and of mosaic genetic variants in common conditions, and the use of sequencing in their identification.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/nature11725", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2784808", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3636942", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5149290", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3637911", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2783713", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2759820", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2776432", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2754723", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3635287", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3635719", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5140726", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5150259", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3643421", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2768439", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5153854", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3637593", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2786745", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1018957", 
            "issn": [
              "0090-0028", 
              "1476-4687"
            ], 
            "name": "Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "7432", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "493"
          }
        ], 
        "name": "Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer", 
        "pagination": "406", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "831c9152cc1ee577f35087009209d25bd64e9c7924a21c55b273337d8e062345"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "23242139"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "0410462"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/nature11725"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1027522882"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/nature11725", 
          "https://app.dimensions.ai/details/publication/pub.1027522882"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T13:57", 
        "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/v90/0000000001_0000000264/records_8660_00000435.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/nature11725"
      }
    ]
     

    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/nature11725'

    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/nature11725'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nature11725'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nature11725'


     

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

    817 TRIPLES      21 PREDICATES      82 URIs      36 LITERALS      25 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/nature11725 schema:about N219404b41d304fe5814a068ee29ee4d8
    2 N3e02bae4438a4cbd816d7a31427b2197
    3 N476b3401a8ec47d99a80dde38b662ec5
    4 N55b6b9f110144d43831386f376298658
    5 N5a0a72ea8ef44fdc9a231b8cb5741990
    6 N6b44cdc08d4f47c0a509cfec014a0142
    7 N73d2f8e62925459aa6d72fae9e2ab76c
    8 N794f8ce74eb445549bc7398769611db3
    9 N802add86c3bd43bc98a709c6e6213f77
    10 N8acf0ad42933418980456e5434815f73
    11 N9eb4a00d74fb4d2a82712dba66392331
    12 Na0e701bfa19f48febcd12a8eaa97df3d
    13 Na98221e662b542cdb8017e0d26358fa8
    14 Nbfd175b704ed493ca5f82f3a49d8753f
    15 Nca941ffd8aa245d8b78c43065d9b377e
    16 Ne3ff108d461a4c208ed4c6ae0939e1bc
    17 anzsrc-for:11
    18 anzsrc-for:1112
    19 schema:author Nbf665a228e9545acaa01c39f4daf0c85
    20 schema:citation sg:pub.10.1007/978-1-61779-089-8_17
    21 sg:pub.10.1007/s10549-012-2057-x
    22 sg:pub.10.1007/s10555-008-9127-x
    23 sg:pub.10.1038/nbt.1523
    24 sg:pub.10.1038/ng.2224
    25 sg:pub.10.1038/ng.2270
    26 sg:pub.10.1038/ng.2271
    27 sg:pub.10.1038/ng.569
    28 sg:pub.10.1038/ng.586
    29 sg:pub.10.1038/ng.893
    30 sg:pub.10.1038/ng.952
    31 sg:pub.10.1038/ng1837
    32 sg:pub.10.1038/ng1902
    33 sg:pub.10.1038/ng1959
    34 sg:pub.10.1038/ng879
    35 sg:pub.10.1038/ng894
    36 sg:pub.10.1038/nrg2779
    37 sg:pub.10.1038/sj.cdd.4401801
    38 sg:pub.10.1038/sj.onc.1210729
    39 https://app.dimensions.ai/details/publication/pub.1075302345
    40 https://doi.org/10.1002/gepi.1014
    41 https://doi.org/10.1002/gepi.10261
    42 https://doi.org/10.1002/gepi.1370050611
    43 https://doi.org/10.1002/gepi.21620
    44 https://doi.org/10.1002/path.3990
    45 https://doi.org/10.1016/j.gde.2010.03.001
    46 https://doi.org/10.1021/bi101949t
    47 https://doi.org/10.1073/pnas.94.12.6048
    48 https://doi.org/10.1084/jem.20061563
    49 https://doi.org/10.1093/bioinformatics/btp324
    50 https://doi.org/10.1093/jb/mvn135
    51 https://doi.org/10.1093/nar/gnf056
    52 https://doi.org/10.1101/gr.111120.110
    53 https://doi.org/10.1146/annurev.genom.9.081307.164339
    54 https://doi.org/10.1158/1078-0432.ccr-08-1878
    55 https://doi.org/10.1158/1078-0432.ccr-08-2403
    56 https://doi.org/10.1261/rna.815108
    57 https://doi.org/10.4161/cc.4.8.1876
    58 schema:datePublished 2012-12-16
    59 schema:datePublishedReg 2012-12-16
    60 schema:description Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and replication. Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer. PPM1D PTV mutations were present in 25 out of 7,781 cases versus 1 out of 5,861 controls (P = 1.12 × 10(-5)), including 18 mutations in 6,912 individuals with breast cancer (P = 2.42 × 10(-4)) and 12 mutations in 1,121 individuals with ovarian cancer (P = 3.10 × 10(-9)). Notably, all of the identified PPM1D PTVs were mosaic in lymphocyte DNA and clustered within a 370-base-pair region in the final exon of the gene, carboxy-terminal to the phosphatase catalytic domain. Functional studies demonstrate that the mutations result in enhanced suppression of p53 in response to ionizing radiation exposure, suggesting that the mutant alleles encode hyperactive PPM1D isoforms. Thus, although the mutations cause premature protein truncation, they do not result in the simple loss-of-function effect typically associated with this class of variant, but instead probably have a gain-of-function effect. Our results have implications for the detection and management of breast and ovarian cancer risk. More generally, these data provide new insights into the role of rare and of mosaic genetic variants in common conditions, and the use of sequencing in their identification.
    61 schema:genre research_article
    62 schema:inLanguage en
    63 schema:isAccessibleForFree true
    64 schema:isPartOf Nb8527d1581a24bd79191c65c095a0c48
    65 Nc5350cfc7f424a35a0973c56d9ddecfc
    66 sg:journal.1018957
    67 schema:name Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
    68 schema:pagination 406
    69 schema:productId N193a25da3f47423bb1b4acece603e8e4
    70 N5d8ee193c65c4d25bb1ab35e16e2e1a1
    71 N66d87c0be1cf41be9824cf2a5d6102d1
    72 Ncdfb5f972ff546af8b44f870299a4831
    73 Nef5a805192db4b4c86d51e649c8432fe
    74 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027522882
    75 https://doi.org/10.1038/nature11725
    76 schema:sdDatePublished 2019-04-10T13:57
    77 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    78 schema:sdPublisher N59211f155f7841f68159e324e3b345ac
    79 schema:url https://www.nature.com/articles/nature11725
    80 sgo:license sg:explorer/license/
    81 sgo:sdDataset articles
    82 rdf:type schema:ScholarlyArticle
    83 N00c56671b30b440fa04a1ff2f55927d3 rdf:first N6d9e3f3f4d03484b8ed9e375da37a49d
    84 rdf:rest Ne9fe0f8f31ad48359cc6d62f4ba2755e
    85 N02bc9f1f907844b2b963e9349f56fbe8 rdf:first sg:person.01164737534.24
    86 rdf:rest Nb94e182c1a204c3e8ed962a23a23ff4a
    87 N049dc370c005472e916b1f1e6910e703 rdf:first sg:person.014235656724.89
    88 rdf:rest Nf4e5b6abd18848cc83ac4c54292a070e
    89 N0c985e728c324a1a81fce855a87ea594 rdf:first sg:person.0776161711.99
    90 rdf:rest N81ef9a6a4daf42b6b63286195fe4ade5
    91 N0c9fd36090a34d8ba479da93b77a1ba1 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    92 schema:familyName Douglas
    93 schema:givenName Jenny
    94 rdf:type schema:Person
    95 N0fcfd7a939c04dbbbe8c44336cd48483 rdf:first Naf48de64b0e84e6c87725db3eb34266d
    96 rdf:rest Ne8cdda971cfd4b419b75d1f8d29cac7f
    97 N1172c63709cf42b8b1e493593f83463d rdf:first sg:person.016704245502.43
    98 rdf:rest N1d9341c8987e46acac83f07e22c30a10
    99 N126dbfdda36743d08eda72651bf2538a rdf:first Naddb2744c299494e84f92e2e8189927f
    100 rdf:rest Ne4712f5c49bc4cc4ac412be03d592c37
    101 N13225c76de214fad98a102ee84c316c2 rdf:first sg:person.01036565737.27
    102 rdf:rest N9da4f668a7b14601807e2e484fd968f4
    103 N157e6af845fe4e3993ee0ebf0c75761f rdf:first sg:person.0651234051.49
    104 rdf:rest Ne0abf7977b7f41958421869645b5afd1
    105 N18449086327943c69a1d84ee0b57e371 rdf:first N6be786b0a823429e9bc0d0bc8f9eee96
    106 rdf:rest N2181744776e94fca99c9af26d881be4f
    107 N193a25da3f47423bb1b4acece603e8e4 schema:name dimensions_id
    108 schema:value pub.1027522882
    109 rdf:type schema:PropertyValue
    110 N1d9341c8987e46acac83f07e22c30a10 rdf:first sg:person.01134314703.76
    111 rdf:rest N8020535e072345f8ab897a60ca135595
    112 N1dcba0fd18194d4e998e3db374ba52a5 rdf:first N6873574603b34470a5ab1f02dd6a4a51
    113 rdf:rest N97b0e23b83c74e82a67f47fa18b59f62
    114 N2181744776e94fca99c9af26d881be4f rdf:first N2b0f610e5e9047de848e588c643f0f64
    115 rdf:rest N37c42ee5e48c4b4cb395e5c98e14064a
    116 N219404b41d304fe5814a068ee29ee4d8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    117 schema:name Genetic Predisposition to Disease
    118 rdf:type schema:DefinedTerm
    119 N21e20b7ce96b4e9eaed968593ec41a29 schema:name NW Thames Regional Genetics Service, Kennedy Galton Centre, London HA1 3UJ, UK
    120 rdf:type schema:Organization
    121 N253a558d7a1143b5909715075b4cc71c schema:name Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK
    122 rdf:type schema:Organization
    123 N25dcd686710949ca8437c114619e9b96 rdf:first sg:person.01361123771.66
    124 rdf:rest N00c56671b30b440fa04a1ff2f55927d3
    125 N285ad7f826e948e1bbc55f161ec403e3 rdf:first sg:person.0713506151.75
    126 rdf:rest N61925d9259ac4ab5b2c759e6815c124b
    127 N297d5158e60344ebab54a288563c8e23 rdf:first sg:person.01152465053.62
    128 rdf:rest N02bc9f1f907844b2b963e9349f56fbe8
    129 N2b0f610e5e9047de848e588c643f0f64 schema:affiliation N21e20b7ce96b4e9eaed968593ec41a29
    130 schema:familyName Brady
    131 schema:givenName Angela F.
    132 rdf:type schema:Person
    133 N2eb69176db9f4c968e86d4e579eb31a7 rdf:first sg:person.01365561632.23
    134 rdf:rest N50763b05c11d41ae933f05c9f610f584
    135 N2f0f6097bdb1496fbed53fa7adbc2cfc rdf:first sg:person.010115766245.30
    136 rdf:rest N049dc370c005472e916b1f1e6910e703
    137 N37c42ee5e48c4b4cb395e5c98e14064a rdf:first sg:person.01254245211.48
    138 rdf:rest N810646326f7d4f5697a0e11aafda4238
    139 N3d9b7aa9ff7e41ad876e519a9c7d1c2c rdf:first sg:person.01167177047.84
    140 rdf:rest Nba63929cee504dfb9ea61f2e010f5e79
    141 N3e02087d37994f0ebb879862a8dee5b1 rdf:first sg:person.01027734551.87
    142 rdf:rest N126dbfdda36743d08eda72651bf2538a
    143 N3e02bae4438a4cbd816d7a31427b2197 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    144 schema:name Phosphoprotein Phosphatases
    145 rdf:type schema:DefinedTerm
    146 N40a469a484ce4fef8b2769d74f982014 rdf:first sg:person.011135120262.48
    147 rdf:rest N3e02087d37994f0ebb879862a8dee5b1
    148 N46a9aed3081a4a17bf821b639cec656f schema:name NE Thames Regional Genetics Service, Great Ormond St Hospital, London WC1N 3JH, UK
    149 rdf:type schema:Organization
    150 N476b3401a8ec47d99a80dde38b662ec5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    151 schema:name Mutation
    152 rdf:type schema:DefinedTerm
    153 N48eb8bd140c0461995c1426564535c26 rdf:first sg:person.01371335603.13
    154 rdf:rest Nc448f677900e4e64ac61b39eb3da4274
    155 N4901e5a890724ab8aaa95799366143e6 rdf:first N560140ebc88b457dab970b695551391e
    156 rdf:rest N8806f9cb749340a1b80100f85fb07d87
    157 N50763b05c11d41ae933f05c9f610f584 rdf:first sg:person.01150442073.71
    158 rdf:rest Nda1132401f4949fdbfa67cb4ef7c1cdf
    159 N5276d26fd367491b9a8dfacc2bce3630 rdf:first sg:person.0671243560.60
    160 rdf:rest Ne055c7c5378f4e279118a12e4f4c84b1
    161 N55b6b9f110144d43831386f376298658 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    162 schema:name Cluster Analysis
    163 rdf:type schema:DefinedTerm
    164 N560140ebc88b457dab970b695551391e schema:affiliation N46a9aed3081a4a17bf821b639cec656f
    165 schema:familyName Kumar
    166 schema:givenName Ajith
    167 rdf:type schema:Person
    168 N578d66eb696b48f6a7c5466fa56dc5cd rdf:first sg:person.011013226044.60
    169 rdf:rest N1172c63709cf42b8b1e493593f83463d
    170 N59211f155f7841f68159e324e3b345ac schema:name Springer Nature - SN SciGraph project
    171 rdf:type schema:Organization
    172 N594b2a2da9ee4dd592c2a4c0276d5598 schema:affiliation https://www.grid.ac/institutes/grid.4868.2
    173 schema:familyName Caufield
    174 schema:givenName Mark J.
    175 rdf:type schema:Person
    176 N5a0a72ea8ef44fdc9a231b8cb5741990 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    177 schema:name Exons
    178 rdf:type schema:DefinedTerm
    179 N5c252ff5050446bdaf6409ef08306e3d rdf:first sg:person.01014324530.83
    180 rdf:rest Nf4c83b4868b34beeb648e289a6b04fcc
    181 N5d8ee193c65c4d25bb1ab35e16e2e1a1 schema:name readcube_id
    182 schema:value 831c9152cc1ee577f35087009209d25bd64e9c7924a21c55b273337d8e062345
    183 rdf:type schema:PropertyValue
    184 N61925d9259ac4ab5b2c759e6815c124b rdf:first sg:person.01174037241.18
    185 rdf:rest Nb83b113fe8df47078fcd362f6b09b245
    186 N66d87c0be1cf41be9824cf2a5d6102d1 schema:name nlm_unique_id
    187 schema:value 0410462
    188 rdf:type schema:PropertyValue
    189 N67f59e7404cd40e4967e9fc7efe9141a rdf:first sg:person.012513472776.02
    190 rdf:rest N5c252ff5050446bdaf6409ef08306e3d
    191 N6827e14b2de348c6b7d0584d29e6330c schema:affiliation https://www.grid.ac/institutes/grid.413030.5
    192 schema:familyName Davidson
    193 schema:givenName Rosemarie
    194 rdf:type schema:Person
    195 N6873574603b34470a5ab1f02dd6a4a51 schema:affiliation https://www.grid.ac/institutes/grid.410556.3
    196 schema:familyName Walker
    197 schema:givenName Lisa
    198 rdf:type schema:Person
    199 N6b44cdc08d4f47c0a509cfec014a0142 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    200 schema:name Protein Phosphatase 2C
    201 rdf:type schema:DefinedTerm
    202 N6bc1028ee22d4b22af7f294c26a70fd2 rdf:first sg:person.0771741373.06
    203 rdf:rest N2eb69176db9f4c968e86d4e579eb31a7
    204 N6be786b0a823429e9bc0d0bc8f9eee96 schema:affiliation https://www.grid.ac/institutes/grid.8241.f
    205 schema:familyName Berg
    206 schema:givenName Jonathan
    207 rdf:type schema:Person
    208 N6d9e3f3f4d03484b8ed9e375da37a49d schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    209 schema:familyName Hanks
    210 schema:givenName Sandra
    211 rdf:type schema:Person
    212 N6ec71aa65a7a43c69343a9aae686d961 rdf:first sg:person.015543264761.71
    213 rdf:rest Naa02a5d3038d4ff9b183882316108c1d
    214 N6fba5ffca4514aa5aa4c3e5958ec637b rdf:first sg:person.01257156522.04
    215 rdf:rest N297d5158e60344ebab54a288563c8e23
    216 N72277ba2cf904d25bdc0f5258910a832 rdf:first sg:person.0756760721.46
    217 rdf:rest N25dcd686710949ca8437c114619e9b96
    218 N7333ae43b59d49bb8f183c4df2b19892 rdf:first Na805b345544e46a6997d73c5e2acd089
    219 rdf:rest Nc6e80eed0ec248eda588403f5b8fa908
    220 N73d2f8e62925459aa6d72fae9e2ab76c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    221 schema:name Tumor Suppressor Protein p53
    222 rdf:type schema:DefinedTerm
    223 N794f8ce74eb445549bc7398769611db3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    224 schema:name Female
    225 rdf:type schema:DefinedTerm
    226 N7c31a1c36f8a405287f89046ee3b3a05 rdf:first sg:person.011535504567.79
    227 rdf:rest Ndada7d2dadac49faa1ba81111c2fda22
    228 N8020535e072345f8ab897a60ca135595 rdf:first sg:person.013130445567.71
    229 rdf:rest N67f59e7404cd40e4967e9fc7efe9141a
    230 N802add86c3bd43bc98a709c6e6213f77 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    231 schema:name Lymphocytes
    232 rdf:type schema:DefinedTerm
    233 N810646326f7d4f5697a0e11aafda4238 rdf:first sg:person.0673600732.61
    234 rdf:rest N0c985e728c324a1a81fce855a87ea594
    235 N81ef9a6a4daf42b6b63286195fe4ade5 rdf:first Nc08dda518d39481490a709b43de0819f
    236 rdf:rest Ndf09f5e98c07446091ecd472878e584e
    237 N8806f9cb749340a1b80100f85fb07d87 rdf:first sg:person.01026225646.85
    238 rdf:rest N6ec71aa65a7a43c69343a9aae686d961
    239 N8acf0ad42933418980456e5434815f73 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    240 schema:name Isoenzymes
    241 rdf:type schema:DefinedTerm
    242 N8dacc7b438fe440b8badb8ea03d4151c schema:affiliation https://www.grid.ac/institutes/grid.4777.3
    243 schema:familyName Morrison
    244 schema:givenName Patrick J.
    245 rdf:type schema:Person
    246 N95598b8f45064462aca4f83c55ed82b7 rdf:first sg:person.013267434314.90
    247 rdf:rest N72277ba2cf904d25bdc0f5258910a832
    248 N97b0e23b83c74e82a67f47fa18b59f62 rdf:first Nfba69a3d54d9447688490d3502dfeb82
    249 rdf:rest N2f0f6097bdb1496fbed53fa7adbc2cfc
    250 N9da4f668a7b14601807e2e484fd968f4 rdf:first Ncc48590cf04f4c2890829f3ced37a0e4
    251 rdf:rest N6fba5ffca4514aa5aa4c3e5958ec637b
    252 N9eb4a00d74fb4d2a82712dba66392331 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    253 schema:name Breast Neoplasms
    254 rdf:type schema:DefinedTerm
    255 Na0ce8cca18274d43ac9a7aacaff68fce rdf:first sg:person.01055327365.45
    256 rdf:rest N3d9b7aa9ff7e41ad876e519a9c7d1c2c
    257 Na0e701bfa19f48febcd12a8eaa97df3d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    258 schema:name Sequence Analysis, DNA
    259 rdf:type schema:DefinedTerm
    260 Na805b345544e46a6997d73c5e2acd089 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    261 schema:familyName Renwick
    262 schema:givenName Anthony
    263 rdf:type schema:Person
    264 Na98221e662b542cdb8017e0d26358fa8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    265 schema:name Humans
    266 rdf:type schema:DefinedTerm
    267 Naa02a5d3038d4ff9b183882316108c1d rdf:first N8dacc7b438fe440b8badb8ea03d4151c
    268 rdf:rest N157e6af845fe4e3993ee0ebf0c75761f
    269 Nad4730857a16406094412eac804eed92 rdf:first Nc88c6549e3da4c4cb6107da4231284a4
    270 rdf:rest N5276d26fd367491b9a8dfacc2bce3630
    271 Naddb2744c299494e84f92e2e8189927f schema:affiliation https://www.grid.ac/institutes/grid.420004.2
    272 schema:familyName Henderson
    273 schema:givenName Alex
    274 rdf:type schema:Person
    275 Naf48de64b0e84e6c87725db3eb34266d schema:affiliation https://www.grid.ac/institutes/grid.241103.5
    276 schema:familyName Rogers
    277 schema:givenName Mark T.
    278 rdf:type schema:Person
    279 Nb83b113fe8df47078fcd362f6b09b245 rdf:first sg:person.01264252651.05
    280 rdf:rest N40a469a484ce4fef8b2769d74f982014
    281 Nb8527d1581a24bd79191c65c095a0c48 schema:issueNumber 7432
    282 rdf:type schema:PublicationIssue
    283 Nb94e182c1a204c3e8ed962a23a23ff4a rdf:first sg:person.0575504461.16
    284 rdf:rest N18449086327943c69a1d84ee0b57e371
    285 Nba63929cee504dfb9ea61f2e010f5e79 rdf:first sg:person.01002032720.52
    286 rdf:rest N48eb8bd140c0461995c1426564535c26
    287 Nbf665a228e9545acaa01c39f4daf0c85 rdf:first sg:person.01307554501.51
    288 rdf:rest N6bc1028ee22d4b22af7f294c26a70fd2
    289 Nbfd175b704ed493ca5f82f3a49d8753f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    290 schema:name Mosaicism
    291 rdf:type schema:DefinedTerm
    292 Nc08dda518d39481490a709b43de0819f schema:affiliation https://www.grid.ac/institutes/grid.419127.8
    293 schema:familyName Cook
    294 schema:givenName Jackie
    295 rdf:type schema:Person
    296 Nc3e9fcb6a67946039b7f30521b76771b schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    297 schema:familyName Murray
    298 schema:givenName Anne
    299 rdf:type schema:Person
    300 Nc448f677900e4e64ac61b39eb3da4274 rdf:first sg:person.01056542504.81
    301 rdf:rest rdf:nil
    302 Nc5350cfc7f424a35a0973c56d9ddecfc schema:volumeNumber 493
    303 rdf:type schema:PublicationVolume
    304 Nc6e80eed0ec248eda588403f5b8fa908 rdf:first sg:person.01315221535.21
    305 rdf:rest Nad4730857a16406094412eac804eed92
    306 Nc88c6549e3da4c4cb6107da4231284a4 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    307 schema:familyName Ramsay
    308 schema:givenName Emma
    309 rdf:type schema:Person
    310 Nca941ffd8aa245d8b78c43065d9b377e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    311 schema:name Alleles
    312 rdf:type schema:DefinedTerm
    313 Ncc48590cf04f4c2890829f3ced37a0e4 schema:affiliation https://www.grid.ac/institutes/grid.270683.8
    314 schema:familyName Rimmer
    315 schema:givenName Andrew
    316 rdf:type schema:Person
    317 Ncdfb5f972ff546af8b44f870299a4831 schema:name doi
    318 schema:value 10.1038/nature11725
    319 rdf:type schema:PropertyValue
    320 Nda1132401f4949fdbfa67cb4ef7c1cdf rdf:first sg:person.01304562620.78
    321 rdf:rest Nfd67769276394f8eb21ad46899251e9f
    322 Ndada7d2dadac49faa1ba81111c2fda22 rdf:first N0c9fd36090a34d8ba479da93b77a1ba1
    323 rdf:rest N13225c76de214fad98a102ee84c316c2
    324 Ndf09f5e98c07446091ecd472878e584e rdf:first N6827e14b2de348c6b7d0584d29e6330c
    325 rdf:rest N285ad7f826e948e1bbc55f161ec403e3
    326 Ne055c7c5378f4e279118a12e4f4c84b1 rdf:first sg:person.0713502665.36
    327 rdf:rest N95598b8f45064462aca4f83c55ed82b7
    328 Ne0abf7977b7f41958421869645b5afd1 rdf:first sg:person.01112743532.63
    329 rdf:rest N0fcfd7a939c04dbbbe8c44336cd48483
    330 Ne3ff108d461a4c208ed4c6ae0939e1bc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    331 schema:name Ovarian Neoplasms
    332 rdf:type schema:DefinedTerm
    333 Ne4712f5c49bc4cc4ac412be03d592c37 rdf:first sg:person.01203157321.21
    334 rdf:rest N4901e5a890724ab8aaa95799366143e6
    335 Ne8cdda971cfd4b419b75d1f8d29cac7f rdf:first sg:person.01076766312.66
    336 rdf:rest N1dcba0fd18194d4e998e3db374ba52a5
    337 Ne9fe0f8f31ad48359cc6d62f4ba2755e rdf:first Nc3e9fcb6a67946039b7f30521b76771b
    338 rdf:rest N7c31a1c36f8a405287f89046ee3b3a05
    339 Nef5a805192db4b4c86d51e649c8432fe schema:name pubmed_id
    340 schema:value 23242139
    341 rdf:type schema:PropertyValue
    342 Nf418773d940d43bfabc43a263b8efdb2 schema:name University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane 4102, Australia
    343 rdf:type schema:Organization
    344 Nf4c75a1919b64e72a948726e58e18b1c rdf:first sg:person.0635517671.87
    345 rdf:rest N7333ae43b59d49bb8f183c4df2b19892
    346 Nf4c83b4868b34beeb648e289a6b04fcc rdf:first sg:person.01045625165.06
    347 rdf:rest Na0ce8cca18274d43ac9a7aacaff68fce
    348 Nf4e5b6abd18848cc83ac4c54292a070e rdf:first N594b2a2da9ee4dd592c2a4c0276d5598
    349 rdf:rest N578d66eb696b48f6a7c5466fa56dc5cd
    350 Nfba69a3d54d9447688490d3502dfeb82 schema:affiliation https://www.grid.ac/institutes/grid.5072.0
    351 schema:familyName Gore
    352 schema:givenName Martin
    353 rdf:type schema:Person
    354 Nfd67769276394f8eb21ad46899251e9f rdf:first sg:person.01027144267.74
    355 rdf:rest Nf4c75a1919b64e72a948726e58e18b1c
    356 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    357 schema:name Medical and Health Sciences
    358 rdf:type schema:DefinedTerm
    359 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
    360 schema:name Oncology and Carcinogenesis
    361 rdf:type schema:DefinedTerm
    362 sg:grant.2754723 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    363 rdf:type schema:MonetaryGrant
    364 sg:grant.2759820 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    365 rdf:type schema:MonetaryGrant
    366 sg:grant.2768439 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    367 rdf:type schema:MonetaryGrant
    368 sg:grant.2776432 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    369 rdf:type schema:MonetaryGrant
    370 sg:grant.2783713 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    371 rdf:type schema:MonetaryGrant
    372 sg:grant.2784808 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    373 rdf:type schema:MonetaryGrant
    374 sg:grant.2786745 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    375 rdf:type schema:MonetaryGrant
    376 sg:grant.3635287 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    377 rdf:type schema:MonetaryGrant
    378 sg:grant.3635719 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    379 rdf:type schema:MonetaryGrant
    380 sg:grant.3636942 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    381 rdf:type schema:MonetaryGrant
    382 sg:grant.3637593 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    383 rdf:type schema:MonetaryGrant
    384 sg:grant.3637911 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    385 rdf:type schema:MonetaryGrant
    386 sg:grant.3643421 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    387 rdf:type schema:MonetaryGrant
    388 sg:grant.5140726 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    389 rdf:type schema:MonetaryGrant
    390 sg:grant.5149290 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    391 rdf:type schema:MonetaryGrant
    392 sg:grant.5150259 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    393 rdf:type schema:MonetaryGrant
    394 sg:grant.5153854 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11725
    395 rdf:type schema:MonetaryGrant
    396 sg:journal.1018957 schema:issn 0090-0028
    397 1476-4687
    398 schema:name Nature
    399 rdf:type schema:Periodical
    400 sg:person.01002032720.52 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    401 schema:familyName Lord
    402 schema:givenName Christopher J.
    403 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002032720.52
    404 rdf:type schema:Person
    405 sg:person.010115766245.30 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    406 schema:familyName Houlston
    407 schema:givenName Richard
    408 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010115766245.30
    409 rdf:type schema:Person
    410 sg:person.01014324530.83 schema:affiliation https://www.grid.ac/institutes/grid.5072.0
    411 schema:familyName Turnbull
    412 schema:givenName Clare
    413 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014324530.83
    414 rdf:type schema:Person
    415 sg:person.01026225646.85 schema:affiliation https://www.grid.ac/institutes/grid.416523.7
    416 schema:familyName Lalloo
    417 schema:givenName Fiona
    418 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026225646.85
    419 rdf:type schema:Person
    420 sg:person.01027144267.74 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    421 schema:familyName Brough
    422 schema:givenName Rachel
    423 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027144267.74
    424 rdf:type schema:Person
    425 sg:person.01027734551.87 schema:affiliation https://www.grid.ac/institutes/grid.419317.9
    426 schema:familyName Greenhalgh
    427 schema:givenName Lynn
    428 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027734551.87
    429 rdf:type schema:Person
    430 sg:person.01036565737.27 schema:affiliation https://www.grid.ac/institutes/grid.270683.8
    431 schema:familyName Gregory
    432 schema:givenName Lorna
    433 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036565737.27
    434 rdf:type schema:Person
    435 sg:person.01045625165.06 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    436 schema:familyName Reis-Filho
    437 schema:givenName Jorge S.
    438 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045625165.06
    439 rdf:type schema:Person
    440 sg:person.01055327365.45 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    441 schema:familyName Ashworth
    442 schema:givenName Alan
    443 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055327365.45
    444 rdf:type schema:Person
    445 sg:person.01056542504.81 schema:affiliation https://www.grid.ac/institutes/grid.5072.0
    446 schema:familyName Rahman
    447 schema:givenName Nazneen
    448 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056542504.81
    449 rdf:type schema:Person
    450 sg:person.01076766312.66 schema:affiliation https://www.grid.ac/institutes/grid.5072.0
    451 schema:familyName Shanley
    452 schema:givenName Susan
    453 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076766312.66
    454 rdf:type schema:Person
    455 sg:person.011013226044.60 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
    456 schema:familyName Deloukas
    457 schema:givenName Panagiotis
    458 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011013226044.60
    459 rdf:type schema:Person
    460 sg:person.01112743532.63 schema:affiliation https://www.grid.ac/institutes/grid.417068.c
    461 schema:familyName Porteous
    462 schema:givenName Mary
    463 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112743532.63
    464 rdf:type schema:Person
    465 sg:person.011135120262.48 schema:affiliation https://www.grid.ac/institutes/grid.416523.7
    466 schema:familyName Evans
    467 schema:givenName D. Gareth
    468 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011135120262.48
    469 rdf:type schema:Person
    470 sg:person.01134314703.76 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    471 schema:familyName Todd
    472 schema:givenName John A.
    473 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134314703.76
    474 rdf:type schema:Person
    475 sg:person.01150442073.71 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    476 schema:familyName Loveday
    477 schema:givenName Chey
    478 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150442073.71
    479 rdf:type schema:Person
    480 sg:person.01152465053.62 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
    481 schema:familyName Yang
    482 schema:givenName Tsun-Po
    483 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152465053.62
    484 rdf:type schema:Person
    485 sg:person.011535504567.79 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    486 schema:familyName Pour
    487 schema:givenName Naser Ansari
    488 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011535504567.79
    489 rdf:type schema:Person
    490 sg:person.01164737534.24 schema:affiliation https://www.grid.ac/institutes/grid.413818.7
    491 schema:familyName Adlard
    492 schema:givenName Julian W.
    493 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164737534.24
    494 rdf:type schema:Person
    495 sg:person.01167177047.84 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    496 schema:familyName Antoniou
    497 schema:givenName Antonis C.
    498 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167177047.84
    499 rdf:type schema:Person
    500 sg:person.01174037241.18 schema:affiliation https://www.grid.ac/institutes/grid.420004.2
    501 schema:familyName Douglas
    502 schema:givenName Fiona
    503 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174037241.18
    504 rdf:type schema:Person
    505 sg:person.01203157321.21 schema:affiliation https://www.grid.ac/institutes/grid.420545.2
    506 schema:familyName Izatt
    507 schema:givenName Louise
    508 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203157321.21
    509 rdf:type schema:Person
    510 sg:person.012513472776.02 schema:familyName Consortium
    511 schema:givenName Wellcome Trust Case Control
    512 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012513472776.02
    513 rdf:type schema:Person
    514 sg:person.01254245211.48 schema:affiliation https://www.grid.ac/institutes/grid.416118.b
    515 schema:familyName Brewer
    516 schema:givenName Carole
    517 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01254245211.48
    518 rdf:type schema:Person
    519 sg:person.01257156522.04 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    520 schema:familyName Walker
    521 schema:givenName Neil M.
    522 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257156522.04
    523 rdf:type schema:Person
    524 sg:person.01264252651.05 schema:affiliation N253a558d7a1143b5909715075b4cc71c
    525 schema:familyName Eccles
    526 schema:givenName Diana
    527 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264252651.05
    528 rdf:type schema:Person
    529 sg:person.01304562620.78 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    530 schema:familyName Bajrami
    531 schema:givenName Ilirjana
    532 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304562620.78
    533 rdf:type schema:Person
    534 sg:person.01307554501.51 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    535 schema:familyName Ruark
    536 schema:givenName Elise
    537 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307554501.51
    538 rdf:type schema:Person
    539 sg:person.013130445567.71 schema:familyName Collaboration
    540 schema:givenName The Breast and Ovarian Cancer Susceptibility
    541 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013130445567.71
    542 rdf:type schema:Person
    543 sg:person.01315221535.21 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    544 schema:familyName Seal
    545 schema:givenName Sheila
    546 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315221535.21
    547 rdf:type schema:Person
    548 sg:person.013267434314.90 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    549 schema:familyName Warren-Perry
    550 schema:givenName Margaret
    551 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013267434314.90
    552 rdf:type schema:Person
    553 sg:person.01361123771.66 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    554 schema:familyName Campion-Flora
    555 schema:givenName Adriana
    556 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01361123771.66
    557 rdf:type schema:Person
    558 sg:person.01365561632.23 schema:affiliation https://www.grid.ac/institutes/grid.270683.8
    559 schema:familyName Humburg
    560 schema:givenName Peter
    561 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365561632.23
    562 rdf:type schema:Person
    563 sg:person.01371335603.13 schema:affiliation https://www.grid.ac/institutes/grid.4991.5
    564 schema:familyName Donnelly
    565 schema:givenName Peter
    566 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01371335603.13
    567 rdf:type schema:Person
    568 sg:person.014235656724.89 schema:affiliation Nf418773d940d43bfabc43a263b8efdb2
    569 schema:familyName Brown
    570 schema:givenName Matthew A.
    571 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014235656724.89
    572 rdf:type schema:Person
    573 sg:person.015543264761.71 schema:affiliation https://www.grid.ac/institutes/grid.417581.e
    574 schema:familyName Miedzybrodzka
    575 schema:givenName Zosia
    576 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015543264761.71
    577 rdf:type schema:Person
    578 sg:person.016704245502.43 schema:affiliation https://www.grid.ac/institutes/grid.415719.f
    579 schema:familyName McCarthy
    580 schema:givenName Mark I.
    581 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016704245502.43
    582 rdf:type schema:Person
    583 sg:person.0575504461.16 schema:affiliation https://www.grid.ac/institutes/grid.269014.8
    584 schema:familyName Barwell
    585 schema:givenName Julian
    586 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575504461.16
    587 rdf:type schema:Person
    588 sg:person.0635517671.87 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    589 schema:familyName Rodrigues
    590 schema:givenName Daniel Nava
    591 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635517671.87
    592 rdf:type schema:Person
    593 sg:person.0651234051.49 schema:affiliation https://www.grid.ac/institutes/grid.24029.3d
    594 schema:familyName Paterson
    595 schema:givenName Joan
    596 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651234051.49
    597 rdf:type schema:Person
    598 sg:person.0671243560.60 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    599 schema:familyName Del Vecchio Duarte
    600 schema:givenName Silvana
    601 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671243560.60
    602 rdf:type schema:Person
    603 sg:person.0673600732.61 schema:affiliation https://www.grid.ac/institutes/grid.464688.0
    604 schema:familyName Brice
    605 schema:givenName Glen
    606 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673600732.61
    607 rdf:type schema:Person
    608 sg:person.0713502665.36 schema:affiliation https://www.grid.ac/institutes/grid.4991.5
    609 schema:familyName Rivas
    610 schema:givenName Manuel A.
    611 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713502665.36
    612 rdf:type schema:Person
    613 sg:person.0713506151.75 schema:affiliation https://www.grid.ac/institutes/grid.410421.2
    614 schema:familyName Donaldson
    615 schema:givenName Alan
    616 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713506151.75
    617 rdf:type schema:Person
    618 sg:person.0756760721.46 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    619 schema:familyName Zachariou
    620 schema:givenName Anna
    621 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756760721.46
    622 rdf:type schema:Person
    623 sg:person.0771741373.06 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
    624 schema:familyName Snape
    625 schema:givenName Katie
    626 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771741373.06
    627 rdf:type schema:Person
    628 sg:person.0776161711.99 schema:affiliation https://www.grid.ac/institutes/grid.423077.5
    629 schema:familyName Chapman
    630 schema:givenName Cyril
    631 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776161711.99
    632 rdf:type schema:Person
    633 sg:pub.10.1007/978-1-61779-089-8_17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047797280
    634 https://doi.org/10.1007/978-1-61779-089-8_17
    635 rdf:type schema:CreativeWork
    636 sg:pub.10.1007/s10549-012-2057-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1031131308
    637 https://doi.org/10.1007/s10549-012-2057-x
    638 rdf:type schema:CreativeWork
    639 sg:pub.10.1007/s10555-008-9127-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1030791778
    640 https://doi.org/10.1007/s10555-008-9127-x
    641 rdf:type schema:CreativeWork
    642 sg:pub.10.1038/nbt.1523 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040653661
    643 https://doi.org/10.1038/nbt.1523
    644 rdf:type schema:CreativeWork
    645 sg:pub.10.1038/ng.2224 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026052905
    646 https://doi.org/10.1038/ng.2224
    647 rdf:type schema:CreativeWork
    648 sg:pub.10.1038/ng.2270 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048576872
    649 https://doi.org/10.1038/ng.2270
    650 rdf:type schema:CreativeWork
    651 sg:pub.10.1038/ng.2271 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014329007
    652 https://doi.org/10.1038/ng.2271
    653 rdf:type schema:CreativeWork
    654 sg:pub.10.1038/ng.569 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010090340
    655 https://doi.org/10.1038/ng.569
    656 rdf:type schema:CreativeWork
    657 sg:pub.10.1038/ng.586 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006256853
    658 https://doi.org/10.1038/ng.586
    659 rdf:type schema:CreativeWork
    660 sg:pub.10.1038/ng.893 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020242362
    661 https://doi.org/10.1038/ng.893
    662 rdf:type schema:CreativeWork
    663 sg:pub.10.1038/ng.952 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043485621
    664 https://doi.org/10.1038/ng.952
    665 rdf:type schema:CreativeWork
    666 sg:pub.10.1038/ng1837 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046588350
    667 https://doi.org/10.1038/ng1837
    668 rdf:type schema:CreativeWork
    669 sg:pub.10.1038/ng1902 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032659958
    670 https://doi.org/10.1038/ng1902
    671 rdf:type schema:CreativeWork
    672 sg:pub.10.1038/ng1959 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022261638
    673 https://doi.org/10.1038/ng1959
    674 rdf:type schema:CreativeWork
    675 sg:pub.10.1038/ng879 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012667501
    676 https://doi.org/10.1038/ng879
    677 rdf:type schema:CreativeWork
    678 sg:pub.10.1038/ng894 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050874862
    679 https://doi.org/10.1038/ng894
    680 rdf:type schema:CreativeWork
    681 sg:pub.10.1038/nrg2779 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050625874
    682 https://doi.org/10.1038/nrg2779
    683 rdf:type schema:CreativeWork
    684 sg:pub.10.1038/sj.cdd.4401801 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038926591
    685 https://doi.org/10.1038/sj.cdd.4401801
    686 rdf:type schema:CreativeWork
    687 sg:pub.10.1038/sj.onc.1210729 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051124980
    688 https://doi.org/10.1038/sj.onc.1210729
    689 rdf:type schema:CreativeWork
    690 https://app.dimensions.ai/details/publication/pub.1075302345 schema:CreativeWork
    691 https://doi.org/10.1002/gepi.1014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007274981
    692 rdf:type schema:CreativeWork
    693 https://doi.org/10.1002/gepi.10261 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004067474
    694 rdf:type schema:CreativeWork
    695 https://doi.org/10.1002/gepi.1370050611 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021406587
    696 rdf:type schema:CreativeWork
    697 https://doi.org/10.1002/gepi.21620 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030698605
    698 rdf:type schema:CreativeWork
    699 https://doi.org/10.1002/path.3990 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018330489
    700 rdf:type schema:CreativeWork
    701 https://doi.org/10.1016/j.gde.2010.03.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011001027
    702 rdf:type schema:CreativeWork
    703 https://doi.org/10.1021/bi101949t schema:sameAs https://app.dimensions.ai/details/publication/pub.1011729168
    704 rdf:type schema:CreativeWork
    705 https://doi.org/10.1073/pnas.94.12.6048 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032354117
    706 rdf:type schema:CreativeWork
    707 https://doi.org/10.1084/jem.20061563 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034017584
    708 rdf:type schema:CreativeWork
    709 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
    710 rdf:type schema:CreativeWork
    711 https://doi.org/10.1093/jb/mvn135 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059745997
    712 rdf:type schema:CreativeWork
    713 https://doi.org/10.1093/nar/gnf056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013569073
    714 rdf:type schema:CreativeWork
    715 https://doi.org/10.1101/gr.111120.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051094083
    716 rdf:type schema:CreativeWork
    717 https://doi.org/10.1146/annurev.genom.9.081307.164339 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015964613
    718 rdf:type schema:CreativeWork
    719 https://doi.org/10.1158/1078-0432.ccr-08-1878 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045380281
    720 rdf:type schema:CreativeWork
    721 https://doi.org/10.1158/1078-0432.ccr-08-2403 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000676393
    722 rdf:type schema:CreativeWork
    723 https://doi.org/10.1261/rna.815108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017266231
    724 rdf:type schema:CreativeWork
    725 https://doi.org/10.4161/cc.4.8.1876 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072298366
    726 rdf:type schema:CreativeWork
    727 https://www.grid.ac/institutes/grid.10306.34 schema:alternateName Wellcome Sanger Institute
    728 schema:name The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    729 rdf:type schema:Organization
    730 https://www.grid.ac/institutes/grid.18886.3f schema:alternateName Institute of Cancer Research
    731 schema:name Cancer Research UK Gene Function Laboratory, The Institute of Cancer Research, London SW3 6JB, UK
    732 Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK
    733 The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London SW3 6JB, UK
    734 rdf:type schema:Organization
    735 https://www.grid.ac/institutes/grid.24029.3d schema:alternateName Cambridge University Hospitals NHS Foundation Trust
    736 schema:name East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK
    737 rdf:type schema:Organization
    738 https://www.grid.ac/institutes/grid.241103.5 schema:alternateName University Hospital of Wales
    739 schema:name All Wales Medical Genetics Service, University Hospital of Wales, Cardiff CF14 4XW, UK
    740 rdf:type schema:Organization
    741 https://www.grid.ac/institutes/grid.269014.8 schema:alternateName University Hospitals of Leicester NHS Trust
    742 schema:name Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK
    743 rdf:type schema:Organization
    744 https://www.grid.ac/institutes/grid.270683.8 schema:alternateName Wellcome Centre for Human Genetics
    745 schema:name The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    746 rdf:type schema:Organization
    747 https://www.grid.ac/institutes/grid.410421.2 schema:alternateName University Hospitals Bristol NHS Foundation Trust
    748 schema:name South Western Regional Genetics Service, University Hospitals of Bristol NHS Foundation Trust, Bristol BS2 8EG, UK
    749 rdf:type schema:Organization
    750 https://www.grid.ac/institutes/grid.410556.3 schema:alternateName Oxford University Hospitals NHS Trust
    751 schema:name Oxford Regional Genetics Service, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK
    752 rdf:type schema:Organization
    753 https://www.grid.ac/institutes/grid.413030.5 schema:alternateName Southern General Hospital
    754 schema:name West of Scotland Regional Genetics Service, Laboratory Medicine, Southern General Hospital, Glasgow G51 4TF, UK
    755 rdf:type schema:Organization
    756 https://www.grid.ac/institutes/grid.413818.7 schema:alternateName Chapel Allerton Hospital
    757 schema:name Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK
    758 rdf:type schema:Organization
    759 https://www.grid.ac/institutes/grid.415719.f schema:alternateName Churchill Hospital
    760 schema:name Oxford Centre for Diabetes, Endocrinology and Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LI, UK
    761 Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LI, UK
    762 The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    763 rdf:type schema:Organization
    764 https://www.grid.ac/institutes/grid.416118.b schema:alternateName Royal Devon and Exeter Hospital
    765 schema:name Peninsula Regional Genetics Service, Royal Devon & Exeter Hospital, Exeter EX1 2ED, UK
    766 rdf:type schema:Organization
    767 https://www.grid.ac/institutes/grid.416523.7 schema:alternateName St Mary's Hospital
    768 schema:name Genetic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, Manchester M13 9WL, UK
    769 University Department of Medical Genetics & Regional Genetics Service, St Mary’s Hospital, Manchester M13 9WL, UK
    770 rdf:type schema:Organization
    771 https://www.grid.ac/institutes/grid.417068.c schema:alternateName Western General Hospital
    772 schema:name South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK
    773 rdf:type schema:Organization
    774 https://www.grid.ac/institutes/grid.417581.e schema:alternateName Aberdeen Royal Infirmary
    775 schema:name University of Aberdeen and North of Scotland Clinical Genetics Service, Aberdeen Royal Infirmary, Aberdeen AB25 2ZA, UK
    776 rdf:type schema:Organization
    777 https://www.grid.ac/institutes/grid.419127.8 schema:alternateName Sheffield Children's NHS Foundation Trust
    778 schema:name Sheffield Regional Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield S10 2TH, UK
    779 rdf:type schema:Organization
    780 https://www.grid.ac/institutes/grid.419317.9 schema:alternateName Liverpool Womens NHS Foundation Trust
    781 schema:name Merseyside and Cheshire Clinical Genetics Service, Liverpool Women’s NHS Foundation Trust, Liverpool L8 7SS, UK
    782 rdf:type schema:Organization
    783 https://www.grid.ac/institutes/grid.420004.2 schema:alternateName Newcastle upon Tyne Hospitals NHS Foundation Trust
    784 schema:name Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle NE1 3BZ, UK
    785 rdf:type schema:Organization
    786 https://www.grid.ac/institutes/grid.420545.2 schema:alternateName Guy's and St Thomas' NHS Foundation Trust
    787 schema:name SE Thames Regional Genetics Service, Guy’s and St Thomas NHS Foundation Trust, London SE1 9RT, UK
    788 rdf:type schema:Organization
    789 https://www.grid.ac/institutes/grid.423077.5 schema:alternateName Birmingham Women's Hospital
    790 schema:name West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham B15 2TG, UK
    791 rdf:type schema:Organization
    792 https://www.grid.ac/institutes/grid.464688.0 schema:alternateName St George's Hospital
    793 schema:name SW Thames Regional Genetics Service, St George’s Hospital, London SW17 0RE, UK
    794 rdf:type schema:Organization
    795 https://www.grid.ac/institutes/grid.4777.3 schema:alternateName Queen's University Belfast
    796 schema:name Northern Ireland Regional Genetics Service, Belfast HSC Trust, Department of Medical Genetics, Queen’s University Belfast, Belfast BT9 7AB, UK
    797 rdf:type schema:Organization
    798 https://www.grid.ac/institutes/grid.4868.2 schema:alternateName Queen Mary University of London
    799 schema:name Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK
    800 rdf:type schema:Organization
    801 https://www.grid.ac/institutes/grid.4991.5 schema:alternateName University of Oxford
    802 schema:name Department of Statistics, University of Oxford, Oxford OX1 3TG, UK
    803 Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7LD, UK
    804 The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    805 rdf:type schema:Organization
    806 https://www.grid.ac/institutes/grid.5072.0 schema:alternateName Royal Marsden NHS Foundation Trust
    807 schema:name Department of Cancer Genetics, Royal Marsden NHS Foundation Trust, Sutton SM2 5PT, UK
    808 Department of Gynaecologic Oncology, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK
    809 Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK
    810 rdf:type schema:Organization
    811 https://www.grid.ac/institutes/grid.5335.0 schema:alternateName University of Cambridge
    812 schema:name Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    813 Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0XY, UK
    814 rdf:type schema:Organization
    815 https://www.grid.ac/institutes/grid.8241.f schema:alternateName University of Dundee
    816 schema:name Human Genetics, Division of Medical Sciences, University of Dundee, Dundee DD1 9SY, UK
    817 rdf:type schema:Organization
     




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


    ...