Sequencing and analysis of an Irish human genome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-09

AUTHORS

Pin Tong, James GD Prendergast, Amanda J Lohan, Susan M Farrington, Simon Cronin, Nial Friel, Dan G Bradley, Orla Hardiman, Alex Evans, James F Wilson, Brendan Loftus

ABSTRACT

BACKGROUND: Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence. RESULTS: Using sequence data from a branch of the European ancestral tree as yet unsequenced, we identify variants that may be specific to this population. Through comparisons with HapMap and previous genetic association studies, we identified novel disease-associated variants, including a novel nonsense variant putatively associated with inflammatory bowel disease. We describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information. This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes using data from the current Human Genome Diversity Cell Line Panel (HGDP-CEPH). Finally, we identify gene duplication events as constituting significant targets of recent positive selection in the human lineage. CONCLUSIONS: Our findings show that there remains utility in generating whole genome sequences to illustrate both general principles and reveal specific instances of human biology. With increasing access to low cost sequencing we would predict that even armed with the resources of a small research group a number of similar initiatives geared towards answering specific biological questions will emerge. More... »

PAGES

r91

References to SciGraph publications

  • 2001-02. Initial sequencing and analysis of the human genome in NATURE
  • 2006-08. A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population in GENOME BIOLOGY
  • 2007-10-18. A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • 2007-10-18. Genome-wide detection and characterization of positive selection in human populations in NATURE
  • 2008-07. Mapping and quantifying mammalian transcriptomes by RNA-Seq in NATURE METHODS
  • 2009-10-08. Finding the missing heritability of complex diseases in NATURE
  • 2009-07. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm in NATURE PROTOCOLS
  • 2009-08. A highly annotated whole-genome sequence of a Korean individual in NATURE
  • 2008-11. Accurate whole human genome sequencing using reversible terminator chemistry in NATURE
  • 2009-10. ChIP–seq: advantages and challenges of a maturing technology in NATURE REVIEWS GENETICS
  • 2008-12. AWclust: point-and-click software for non-parametric population structure analysis in BMC BIOINFORMATICS
  • 2009-12. GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists in BMC BIOINFORMATICS
  • 2010-02-18. Complete Khoisan and Bantu genomes from southern Africa in NATURE
  • 2008-11. The diploid genome sequence of an Asian individual in NATURE
  • 2006-03. Anticipating the $1,000 genome in GENOME BIOLOGY
  • 2010-07. Genotype imputation for genome-wide association studies in NATURE REVIEWS GENETICS
  • 2006-12. Genome-wide DNA polymorphism analyses using VariScan in BMC BIOINFORMATICS
  • 2008-11. Genes mirror geography within Europe in NATURE
  • 2008-03. Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis in MUCOSAL IMMUNOLOGY
  • 2009-10. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis in NATURE GENETICS
  • 2008-04-17. The complete genome of an individual by massively parallel DNA sequencing in NATURE
  • 1999-10. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/gb-2010-11-9-r91

    DOI

    http://dx.doi.org/10.1186/gb-2010-11-9-r91

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1014630789

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20822512


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Base Sequence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosome Mapping", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Codon, Nonsense", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "European Continental Ancestry Group", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Duplication", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Association Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Variation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Geography", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Haplotypes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Human Genome Project", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "INDEL Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Inflammatory Bowel Diseases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ireland", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Selection, Genetic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University College Dublin", 
              "id": "https://www.grid.ac/institutes/grid.7886.1", 
              "name": [
                "Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tong", 
            "givenName": "Pin", 
            "id": "sg:person.01271402376.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271402376.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Western General Hospital", 
              "id": "https://www.grid.ac/institutes/grid.417068.c", 
              "name": [
                "MRC Human Genetics Unit, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Prendergast", 
            "givenName": "James GD", 
            "id": "sg:person.011547070064.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011547070064.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University College Dublin", 
              "id": "https://www.grid.ac/institutes/grid.7886.1", 
              "name": [
                "Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lohan", 
            "givenName": "Amanda J", 
            "id": "sg:person.0607006142.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0607006142.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Edinburgh", 
              "id": "https://www.grid.ac/institutes/grid.4305.2", 
              "name": [
                "MRC Human Genetics Unit, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK", 
                "Colon Cancer Genetics Group and Academic Coloproctology, Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Farrington", 
            "givenName": "Susan M", 
            "id": "sg:person.012142217732.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012142217732.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Royal College of Surgeons in Ireland", 
              "id": "https://www.grid.ac/institutes/grid.4912.e", 
              "name": [
                "Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin 2, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cronin", 
            "givenName": "Simon", 
            "id": "sg:person.01325567610.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325567610.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University College Dublin", 
              "id": "https://www.grid.ac/institutes/grid.7886.1", 
              "name": [
                "School of Mathematical Sciences, University College Dublin, Belfield, Dublin 4, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Friel", 
            "givenName": "Nial", 
            "id": "sg:person.01172023051.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172023051.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Trinity College Dublin", 
              "id": "https://www.grid.ac/institutes/grid.8217.c", 
              "name": [
                "Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bradley", 
            "givenName": "Dan G", 
            "id": "sg:person.01175076662.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175076662.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Neurology, Beaumont Hospital and Trinity College Dublin, Beaumont Road, Dublin 9, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hardiman", 
            "givenName": "Orla", 
            "id": "sg:person.01251225041.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251225041.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University College Dublin", 
              "id": "https://www.grid.ac/institutes/grid.7886.1", 
              "name": [
                "School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Evans", 
            "givenName": "Alex", 
            "id": "sg:person.010736642632.38", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010736642632.38"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Edinburgh", 
              "id": "https://www.grid.ac/institutes/grid.4305.2", 
              "name": [
                "Centre for Population Health Sciences, University of Edinburgh, Teviot Place, EH8 9AG, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wilson", 
            "givenName": "James F", 
            "id": "sg:person.01060172311.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060172311.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University College Dublin", 
              "id": "https://www.grid.ac/institutes/grid.7886.1", 
              "name": [
                "Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Loftus", 
            "givenName": "Brendan", 
            "id": "sg:person.01052650052.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052650052.48"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1534/genetics.108.094060", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001728080"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.108.094060", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001728080"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/molbev/msn049", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002112540"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1124309", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004354120"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08494", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005147626", 
              "https://doi.org/10.1038/nature08494"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08494", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005147626", 
              "https://doi.org/10.1038/nature08494"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07331", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005519278", 
              "https://doi.org/10.1038/nature07331"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08795", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005808087", 
              "https://doi.org/10.1038/nature08795"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08795", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005808087", 
              "https://doi.org/10.1038/nature08795"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2641", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006115199", 
              "https://doi.org/10.1038/nrg2641"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2641", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006115199", 
              "https://doi.org/10.1038/nrg2641"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.083394.108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009444549"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2796", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009739594", 
              "https://doi.org/10.1038/nrg2796"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2796", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009739594", 
              "https://doi.org/10.1038/nrg2796"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cub.2009.11.054", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010608472"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1000840", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011416113"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2006-7-7-112", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012723040", 
              "https://doi.org/10.1186/gb-2006-7-7-112"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.6341207", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013025730"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1181498", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014947319"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1181498", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014947319"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2009.86", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015642657", 
              "https://doi.org/10.1038/nprot.2009.86"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.442", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016041388", 
              "https://doi.org/10.1038/ng.442"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.442", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016041388", 
              "https://doi.org/10.1038/ng.442"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07484", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016969839", 
              "https://doi.org/10.1038/nature07484"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2105-7-409", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017442099", 
              "https://doi.org/10.1186/1471-2105-7-409"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2105-9-77", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018623693", 
              "https://doi.org/10.1186/1471-2105-9-77"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejmoa0903840", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019484764"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/molbev/msp190", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020096147"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/molbev/msp190", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020096147"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0903103106", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020299353"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1186802", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020593399"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1186802", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020593399"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp352", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023014918"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/mi.2007.15", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024892825", 
              "https://doi.org/10.1038/mi.2007.15"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pbio.0050254", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028942453"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.073585.107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029032167"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1053/j.gastro.2009.11.046", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029103604"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08211", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030217088", 
              "https://doi.org/10.1038/nature08211"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08211", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030217088", 
              "https://doi.org/10.1038/nature08211"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.0030090", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030508126"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddm361", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030701697"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pbio.0040072", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030948598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pbio.0040072", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030948598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1146/annurev-med-100708-204735", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031129648"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gki033", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032298109"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.21176", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035667926"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.21176", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035667926"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.092197.109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035862153"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature06250", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036876479", 
              "https://doi.org/10.1038/nature06250"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp324", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038266369"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.088013.108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039652135"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/13779", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040703029", 
              "https://doi.org/10.1038/13779"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/13779", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040703029", 
              "https://doi.org/10.1038/13779"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2006-7-8-r74", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041570514", 
              "https://doi.org/10.1186/gb-2006-7-8-r74"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35057062", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042854081", 
              "https://doi.org/10.1038/35057062"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35057062", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042854081", 
              "https://doi.org/10.1038/35057062"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/26.1.285", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043214943"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1000529", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043446290"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.076992.108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044141205"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.1226", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045381177", 
              "https://doi.org/10.1038/nmeth.1226"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature06884", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047672670", 
              "https://doi.org/10.1038/nature06884"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2105-10-48", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048544728", 
              "https://doi.org/10.1186/1471-2105-10-48"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2105-10-48", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048544728", 
              "https://doi.org/10.1186/1471-2105-10-48"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature06258", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051134045", 
              "https://doi.org/10.1038/nature06258"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/521987", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052475645"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07517", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925719", 
              "https://doi.org/10.1038/nature07517"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/316890", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058621833"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/424697", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058713880"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1074647594", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075335894", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1118725", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1077140365"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078957195", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1082898630", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2010-09", 
        "datePublishedReg": "2010-09-01", 
        "description": "BACKGROUND: Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence.\nRESULTS: Using sequence data from a branch of the European ancestral tree as yet unsequenced, we identify variants that may be specific to this population. Through comparisons with HapMap and previous genetic association studies, we identified novel disease-associated variants, including a novel nonsense variant putatively associated with inflammatory bowel disease. We describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information. This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes using data from the current Human Genome Diversity Cell Line Panel (HGDP-CEPH). Finally, we identify gene duplication events as constituting significant targets of recent positive selection in the human lineage.\nCONCLUSIONS: Our findings show that there remains utility in generating whole genome sequences to illustrate both general principles and reveal specific instances of human biology. With increasing access to low cost sequencing we would predict that even armed with the resources of a small research group a number of similar initiatives geared towards answering specific biological questions will emerge.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/gb-2010-11-9-r91", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.3983377", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2783989", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.7668530", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3983500", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5148599", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1023439", 
            "issn": [
              "1474-760X", 
              "1465-6906"
            ], 
            "name": "Genome Biology", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "9", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "11"
          }
        ], 
        "name": "Sequencing and analysis of an Irish human genome", 
        "pagination": "r91", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "45b3791338ca33e11335a4d912c5d18af8a84c1d1fa565ccb44f7ccd4e53000c"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "20822512"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "100960660"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/gb-2010-11-9-r91"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1014630789"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/gb-2010-11-9-r91", 
          "https://app.dimensions.ai/details/publication/pub.1014630789"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T13:16", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8659_00000511.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186%2Fgb-2010-11-9-r91"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/gb-2010-11-9-r91'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/gb-2010-11-9-r91'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/gb-2010-11-9-r91'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/gb-2010-11-9-r91'


     

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

    439 TRIPLES      21 PREDICATES      107 URIs      41 LITERALS      29 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/gb-2010-11-9-r91 schema:about N11913cb5ccce4b96bc9951bef2074368
    2 N1afd52db144d4e07ab909e1b28862573
    3 N1f2b0016768a4eb28a9f09f686e990a7
    4 N45bd4140654842afbddbc5a2ccb3e346
    5 N4d8528b5692046a1bc9886f06bc85aea
    6 N66a171e97f804453b707e1ef1c49591e
    7 N6fe1c6f61b9541c489eb8b892d3dfdeb
    8 N7723da6e133e4091917b6f1fccfbbe2b
    9 N7cdce4657d764c8ab7373bd33943bc2e
    10 N8f0a192ad5cd498fa074f0c307aac73c
    11 N999afc4b7ec4426595ee4e85af74fa4b
    12 Naa2b698f2847494bb971c596cffdf68d
    13 Naf2a9d3d553e43f6a278847a9b82745b
    14 Nbbe7875926724655b58f27a916309d2e
    15 Nc1c73e152d904c9cb858a70b5dda19fe
    16 Ncc12115ed08f4176b2040e0d6a0aa655
    17 Ncffdeb992dc9415cbcfc4eec511eae93
    18 Nddd3e6b3beae430b805e1c49115f9a52
    19 Nebfde77d06f54ac79854de73f8729cf1
    20 Nfa451ef30eb74539bdde10d97ce008cf
    21 anzsrc-for:06
    22 anzsrc-for:0604
    23 schema:author N4a1088d76b3d42c3a5f930772fde4dc0
    24 schema:citation sg:pub.10.1038/13779
    25 sg:pub.10.1038/35057062
    26 sg:pub.10.1038/mi.2007.15
    27 sg:pub.10.1038/nature06250
    28 sg:pub.10.1038/nature06258
    29 sg:pub.10.1038/nature06884
    30 sg:pub.10.1038/nature07331
    31 sg:pub.10.1038/nature07484
    32 sg:pub.10.1038/nature07517
    33 sg:pub.10.1038/nature08211
    34 sg:pub.10.1038/nature08494
    35 sg:pub.10.1038/nature08795
    36 sg:pub.10.1038/ng.442
    37 sg:pub.10.1038/nmeth.1226
    38 sg:pub.10.1038/nprot.2009.86
    39 sg:pub.10.1038/nrg2641
    40 sg:pub.10.1038/nrg2796
    41 sg:pub.10.1186/1471-2105-10-48
    42 sg:pub.10.1186/1471-2105-7-409
    43 sg:pub.10.1186/1471-2105-9-77
    44 sg:pub.10.1186/gb-2006-7-7-112
    45 sg:pub.10.1186/gb-2006-7-8-r74
    46 https://app.dimensions.ai/details/publication/pub.1074647594
    47 https://app.dimensions.ai/details/publication/pub.1075335894
    48 https://app.dimensions.ai/details/publication/pub.1078957195
    49 https://app.dimensions.ai/details/publication/pub.1082898630
    50 https://doi.org/10.1002/ibd.21176
    51 https://doi.org/10.1016/j.cub.2009.11.054
    52 https://doi.org/10.1053/j.gastro.2009.11.046
    53 https://doi.org/10.1056/nejmoa0903840
    54 https://doi.org/10.1073/pnas.0903103106
    55 https://doi.org/10.1086/316890
    56 https://doi.org/10.1086/424697
    57 https://doi.org/10.1086/521987
    58 https://doi.org/10.1093/bioinformatics/btp324
    59 https://doi.org/10.1093/bioinformatics/btp352
    60 https://doi.org/10.1093/hmg/ddm361
    61 https://doi.org/10.1093/molbev/msn049
    62 https://doi.org/10.1093/molbev/msp190
    63 https://doi.org/10.1093/nar/26.1.285
    64 https://doi.org/10.1093/nar/gki033
    65 https://doi.org/10.1101/gr.073585.107
    66 https://doi.org/10.1101/gr.076992.108
    67 https://doi.org/10.1101/gr.083394.108
    68 https://doi.org/10.1101/gr.088013.108
    69 https://doi.org/10.1101/gr.092197.109
    70 https://doi.org/10.1101/gr.6341207
    71 https://doi.org/10.1126/science.1118725
    72 https://doi.org/10.1126/science.1124309
    73 https://doi.org/10.1126/science.1181498
    74 https://doi.org/10.1126/science.1186802
    75 https://doi.org/10.1146/annurev-med-100708-204735
    76 https://doi.org/10.1371/journal.pbio.0040072
    77 https://doi.org/10.1371/journal.pbio.0050254
    78 https://doi.org/10.1371/journal.pgen.0030090
    79 https://doi.org/10.1371/journal.pgen.1000529
    80 https://doi.org/10.1371/journal.pgen.1000840
    81 https://doi.org/10.1534/genetics.108.094060
    82 schema:datePublished 2010-09
    83 schema:datePublishedReg 2010-09-01
    84 schema:description BACKGROUND: Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence. RESULTS: Using sequence data from a branch of the European ancestral tree as yet unsequenced, we identify variants that may be specific to this population. Through comparisons with HapMap and previous genetic association studies, we identified novel disease-associated variants, including a novel nonsense variant putatively associated with inflammatory bowel disease. We describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information. This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes using data from the current Human Genome Diversity Cell Line Panel (HGDP-CEPH). Finally, we identify gene duplication events as constituting significant targets of recent positive selection in the human lineage. CONCLUSIONS: Our findings show that there remains utility in generating whole genome sequences to illustrate both general principles and reveal specific instances of human biology. With increasing access to low cost sequencing we would predict that even armed with the resources of a small research group a number of similar initiatives geared towards answering specific biological questions will emerge.
    85 schema:genre research_article
    86 schema:inLanguage en
    87 schema:isAccessibleForFree true
    88 schema:isPartOf N7e8e38b0379949dbb3b70cdb8470fcd8
    89 Nc583d0645e0f4b76aae0cdaaff7697c4
    90 sg:journal.1023439
    91 schema:name Sequencing and analysis of an Irish human genome
    92 schema:pagination r91
    93 schema:productId N2b491c6a5aee4a2bbe5ca333b916afe3
    94 N4797a0b4e4c744d0a4ba56a52d6b3f75
    95 N545080111491443cb6e63c9470c9df0a
    96 Nc2227cc4e29c4619a6eea90799aa117e
    97 Nf50ed5bd70724c9a9654beb6ba360553
    98 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014630789
    99 https://doi.org/10.1186/gb-2010-11-9-r91
    100 schema:sdDatePublished 2019-04-10T13:16
    101 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    102 schema:sdPublisher N2ae87ab2b36b468fb46dbc8a927b4271
    103 schema:url http://link.springer.com/10.1186%2Fgb-2010-11-9-r91
    104 sgo:license sg:explorer/license/
    105 sgo:sdDataset articles
    106 rdf:type schema:ScholarlyArticle
    107 N0e7350366d39403390c9acbdd48b3673 rdf:first sg:person.012142217732.11
    108 rdf:rest Nd55dde4f90b54cc4b6ab6179fad77ee6
    109 N11913cb5ccce4b96bc9951bef2074368 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    110 schema:name Haplotypes
    111 rdf:type schema:DefinedTerm
    112 N1afd52db144d4e07ab909e1b28862573 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    113 schema:name Genetic Predisposition to Disease
    114 rdf:type schema:DefinedTerm
    115 N1f2b0016768a4eb28a9f09f686e990a7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    116 schema:name Human Genome Project
    117 rdf:type schema:DefinedTerm
    118 N2ae87ab2b36b468fb46dbc8a927b4271 schema:name Springer Nature - SN SciGraph project
    119 rdf:type schema:Organization
    120 N2b491c6a5aee4a2bbe5ca333b916afe3 schema:name doi
    121 schema:value 10.1186/gb-2010-11-9-r91
    122 rdf:type schema:PropertyValue
    123 N45bd4140654842afbddbc5a2ccb3e346 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    124 schema:name Sequence Analysis, DNA
    125 rdf:type schema:DefinedTerm
    126 N4797a0b4e4c744d0a4ba56a52d6b3f75 schema:name readcube_id
    127 schema:value 45b3791338ca33e11335a4d912c5d18af8a84c1d1fa565ccb44f7ccd4e53000c
    128 rdf:type schema:PropertyValue
    129 N4a1088d76b3d42c3a5f930772fde4dc0 rdf:first sg:person.01271402376.54
    130 rdf:rest N53fdbd5d4b1741c281f56becf75004dc
    131 N4d8528b5692046a1bc9886f06bc85aea schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    132 schema:name Codon, Nonsense
    133 rdf:type schema:DefinedTerm
    134 N53fdbd5d4b1741c281f56becf75004dc rdf:first sg:person.011547070064.02
    135 rdf:rest Nc53840dc4bd34d978f6641c9dd8b7662
    136 N545080111491443cb6e63c9470c9df0a schema:name pubmed_id
    137 schema:value 20822512
    138 rdf:type schema:PropertyValue
    139 N66a171e97f804453b707e1ef1c49591e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    140 schema:name Selection, Genetic
    141 rdf:type schema:DefinedTerm
    142 N6f948ca39755450f9623ebab9f8d68d3 rdf:first sg:person.01052650052.48
    143 rdf:rest rdf:nil
    144 N6fe1c6f61b9541c489eb8b892d3dfdeb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    145 schema:name Humans
    146 rdf:type schema:DefinedTerm
    147 N7723da6e133e4091917b6f1fccfbbe2b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    148 schema:name Male
    149 rdf:type schema:DefinedTerm
    150 N7c747b8ee1304c70ad91f2ee04cca4cb rdf:first sg:person.01251225041.52
    151 rdf:rest N836c7376f0554d5da8b3a07dad20b76b
    152 N7cdce4657d764c8ab7373bd33943bc2e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Genetic Association Studies
    154 rdf:type schema:DefinedTerm
    155 N7e8e38b0379949dbb3b70cdb8470fcd8 schema:volumeNumber 11
    156 rdf:type schema:PublicationVolume
    157 N836c7376f0554d5da8b3a07dad20b76b rdf:first sg:person.010736642632.38
    158 rdf:rest N888a0ac667af4084be95256cfe34f059
    159 N888a0ac667af4084be95256cfe34f059 rdf:first sg:person.01060172311.14
    160 rdf:rest N6f948ca39755450f9623ebab9f8d68d3
    161 N8f0a192ad5cd498fa074f0c307aac73c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    162 schema:name Genetic Variation
    163 rdf:type schema:DefinedTerm
    164 N999afc4b7ec4426595ee4e85af74fa4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name Inflammatory Bowel Diseases
    166 rdf:type schema:DefinedTerm
    167 Naa2b698f2847494bb971c596cffdf68d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    168 schema:name Ireland
    169 rdf:type schema:DefinedTerm
    170 Naf2a9d3d553e43f6a278847a9b82745b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    171 schema:name European Continental Ancestry Group
    172 rdf:type schema:DefinedTerm
    173 Nbbe7875926724655b58f27a916309d2e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Geography
    175 rdf:type schema:DefinedTerm
    176 Nc1c73e152d904c9cb858a70b5dda19fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    177 schema:name Genome, Human
    178 rdf:type schema:DefinedTerm
    179 Nc2227cc4e29c4619a6eea90799aa117e schema:name nlm_unique_id
    180 schema:value 100960660
    181 rdf:type schema:PropertyValue
    182 Nc240d6d5f26f41099930aa49e54aad52 rdf:first sg:person.01172023051.26
    183 rdf:rest Nf2ee6a0e5ffe46bf81086956730adf8e
    184 Nc53840dc4bd34d978f6641c9dd8b7662 rdf:first sg:person.0607006142.55
    185 rdf:rest N0e7350366d39403390c9acbdd48b3673
    186 Nc583d0645e0f4b76aae0cdaaff7697c4 schema:issueNumber 9
    187 rdf:type schema:PublicationIssue
    188 Ncc12115ed08f4176b2040e0d6a0aa655 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    189 schema:name Base Sequence
    190 rdf:type schema:DefinedTerm
    191 Ncffdeb992dc9415cbcfc4eec511eae93 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name INDEL Mutation
    193 rdf:type schema:DefinedTerm
    194 Nd55dde4f90b54cc4b6ab6179fad77ee6 rdf:first sg:person.01325567610.44
    195 rdf:rest Nc240d6d5f26f41099930aa49e54aad52
    196 Nd62a68b5899b492f94595e7c4a93e790 schema:name Department of Neurology, Beaumont Hospital and Trinity College Dublin, Beaumont Road, Dublin 9, Ireland
    197 rdf:type schema:Organization
    198 Nddd3e6b3beae430b805e1c49115f9a52 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    199 schema:name Chromosome Mapping
    200 rdf:type schema:DefinedTerm
    201 Nebfde77d06f54ac79854de73f8729cf1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    202 schema:name Gene Duplication
    203 rdf:type schema:DefinedTerm
    204 Nf2ee6a0e5ffe46bf81086956730adf8e rdf:first sg:person.01175076662.74
    205 rdf:rest N7c747b8ee1304c70ad91f2ee04cca4cb
    206 Nf50ed5bd70724c9a9654beb6ba360553 schema:name dimensions_id
    207 schema:value pub.1014630789
    208 rdf:type schema:PropertyValue
    209 Nfa451ef30eb74539bdde10d97ce008cf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    210 schema:name Polymorphism, Single Nucleotide
    211 rdf:type schema:DefinedTerm
    212 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    213 schema:name Biological Sciences
    214 rdf:type schema:DefinedTerm
    215 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    216 schema:name Genetics
    217 rdf:type schema:DefinedTerm
    218 sg:grant.2783989 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2010-11-9-r91
    219 rdf:type schema:MonetaryGrant
    220 sg:grant.3983377 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2010-11-9-r91
    221 rdf:type schema:MonetaryGrant
    222 sg:grant.3983500 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2010-11-9-r91
    223 rdf:type schema:MonetaryGrant
    224 sg:grant.5148599 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2010-11-9-r91
    225 rdf:type schema:MonetaryGrant
    226 sg:grant.7668530 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2010-11-9-r91
    227 rdf:type schema:MonetaryGrant
    228 sg:journal.1023439 schema:issn 1465-6906
    229 1474-760X
    230 schema:name Genome Biology
    231 rdf:type schema:Periodical
    232 sg:person.01052650052.48 schema:affiliation https://www.grid.ac/institutes/grid.7886.1
    233 schema:familyName Loftus
    234 schema:givenName Brendan
    235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052650052.48
    236 rdf:type schema:Person
    237 sg:person.01060172311.14 schema:affiliation https://www.grid.ac/institutes/grid.4305.2
    238 schema:familyName Wilson
    239 schema:givenName James F
    240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060172311.14
    241 rdf:type schema:Person
    242 sg:person.010736642632.38 schema:affiliation https://www.grid.ac/institutes/grid.7886.1
    243 schema:familyName Evans
    244 schema:givenName Alex
    245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010736642632.38
    246 rdf:type schema:Person
    247 sg:person.011547070064.02 schema:affiliation https://www.grid.ac/institutes/grid.417068.c
    248 schema:familyName Prendergast
    249 schema:givenName James GD
    250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011547070064.02
    251 rdf:type schema:Person
    252 sg:person.01172023051.26 schema:affiliation https://www.grid.ac/institutes/grid.7886.1
    253 schema:familyName Friel
    254 schema:givenName Nial
    255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172023051.26
    256 rdf:type schema:Person
    257 sg:person.01175076662.74 schema:affiliation https://www.grid.ac/institutes/grid.8217.c
    258 schema:familyName Bradley
    259 schema:givenName Dan G
    260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175076662.74
    261 rdf:type schema:Person
    262 sg:person.012142217732.11 schema:affiliation https://www.grid.ac/institutes/grid.4305.2
    263 schema:familyName Farrington
    264 schema:givenName Susan M
    265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012142217732.11
    266 rdf:type schema:Person
    267 sg:person.01251225041.52 schema:affiliation Nd62a68b5899b492f94595e7c4a93e790
    268 schema:familyName Hardiman
    269 schema:givenName Orla
    270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251225041.52
    271 rdf:type schema:Person
    272 sg:person.01271402376.54 schema:affiliation https://www.grid.ac/institutes/grid.7886.1
    273 schema:familyName Tong
    274 schema:givenName Pin
    275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271402376.54
    276 rdf:type schema:Person
    277 sg:person.01325567610.44 schema:affiliation https://www.grid.ac/institutes/grid.4912.e
    278 schema:familyName Cronin
    279 schema:givenName Simon
    280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325567610.44
    281 rdf:type schema:Person
    282 sg:person.0607006142.55 schema:affiliation https://www.grid.ac/institutes/grid.7886.1
    283 schema:familyName Lohan
    284 schema:givenName Amanda J
    285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0607006142.55
    286 rdf:type schema:Person
    287 sg:pub.10.1038/13779 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040703029
    288 https://doi.org/10.1038/13779
    289 rdf:type schema:CreativeWork
    290 sg:pub.10.1038/35057062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042854081
    291 https://doi.org/10.1038/35057062
    292 rdf:type schema:CreativeWork
    293 sg:pub.10.1038/mi.2007.15 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024892825
    294 https://doi.org/10.1038/mi.2007.15
    295 rdf:type schema:CreativeWork
    296 sg:pub.10.1038/nature06250 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036876479
    297 https://doi.org/10.1038/nature06250
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1038/nature06258 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051134045
    300 https://doi.org/10.1038/nature06258
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1038/nature06884 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047672670
    303 https://doi.org/10.1038/nature06884
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1038/nature07331 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005519278
    306 https://doi.org/10.1038/nature07331
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1038/nature07484 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016969839
    309 https://doi.org/10.1038/nature07484
    310 rdf:type schema:CreativeWork
    311 sg:pub.10.1038/nature07517 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052925719
    312 https://doi.org/10.1038/nature07517
    313 rdf:type schema:CreativeWork
    314 sg:pub.10.1038/nature08211 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030217088
    315 https://doi.org/10.1038/nature08211
    316 rdf:type schema:CreativeWork
    317 sg:pub.10.1038/nature08494 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005147626
    318 https://doi.org/10.1038/nature08494
    319 rdf:type schema:CreativeWork
    320 sg:pub.10.1038/nature08795 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005808087
    321 https://doi.org/10.1038/nature08795
    322 rdf:type schema:CreativeWork
    323 sg:pub.10.1038/ng.442 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016041388
    324 https://doi.org/10.1038/ng.442
    325 rdf:type schema:CreativeWork
    326 sg:pub.10.1038/nmeth.1226 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045381177
    327 https://doi.org/10.1038/nmeth.1226
    328 rdf:type schema:CreativeWork
    329 sg:pub.10.1038/nprot.2009.86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015642657
    330 https://doi.org/10.1038/nprot.2009.86
    331 rdf:type schema:CreativeWork
    332 sg:pub.10.1038/nrg2641 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006115199
    333 https://doi.org/10.1038/nrg2641
    334 rdf:type schema:CreativeWork
    335 sg:pub.10.1038/nrg2796 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009739594
    336 https://doi.org/10.1038/nrg2796
    337 rdf:type schema:CreativeWork
    338 sg:pub.10.1186/1471-2105-10-48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048544728
    339 https://doi.org/10.1186/1471-2105-10-48
    340 rdf:type schema:CreativeWork
    341 sg:pub.10.1186/1471-2105-7-409 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017442099
    342 https://doi.org/10.1186/1471-2105-7-409
    343 rdf:type schema:CreativeWork
    344 sg:pub.10.1186/1471-2105-9-77 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018623693
    345 https://doi.org/10.1186/1471-2105-9-77
    346 rdf:type schema:CreativeWork
    347 sg:pub.10.1186/gb-2006-7-7-112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012723040
    348 https://doi.org/10.1186/gb-2006-7-7-112
    349 rdf:type schema:CreativeWork
    350 sg:pub.10.1186/gb-2006-7-8-r74 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041570514
    351 https://doi.org/10.1186/gb-2006-7-8-r74
    352 rdf:type schema:CreativeWork
    353 https://app.dimensions.ai/details/publication/pub.1074647594 schema:CreativeWork
    354 https://app.dimensions.ai/details/publication/pub.1075335894 schema:CreativeWork
    355 https://app.dimensions.ai/details/publication/pub.1078957195 schema:CreativeWork
    356 https://app.dimensions.ai/details/publication/pub.1082898630 schema:CreativeWork
    357 https://doi.org/10.1002/ibd.21176 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035667926
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1016/j.cub.2009.11.054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010608472
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1053/j.gastro.2009.11.046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029103604
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1056/nejmoa0903840 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019484764
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1073/pnas.0903103106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020299353
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1086/316890 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058621833
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1086/424697 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058713880
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1086/521987 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052475645
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1093/bioinformatics/btp352 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023014918
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1093/hmg/ddm361 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030701697
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1093/molbev/msn049 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002112540
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.1093/molbev/msp190 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020096147
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.1093/nar/26.1.285 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043214943
    384 rdf:type schema:CreativeWork
    385 https://doi.org/10.1093/nar/gki033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032298109
    386 rdf:type schema:CreativeWork
    387 https://doi.org/10.1101/gr.073585.107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029032167
    388 rdf:type schema:CreativeWork
    389 https://doi.org/10.1101/gr.076992.108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044141205
    390 rdf:type schema:CreativeWork
    391 https://doi.org/10.1101/gr.083394.108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009444549
    392 rdf:type schema:CreativeWork
    393 https://doi.org/10.1101/gr.088013.108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039652135
    394 rdf:type schema:CreativeWork
    395 https://doi.org/10.1101/gr.092197.109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035862153
    396 rdf:type schema:CreativeWork
    397 https://doi.org/10.1101/gr.6341207 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013025730
    398 rdf:type schema:CreativeWork
    399 https://doi.org/10.1126/science.1118725 schema:sameAs https://app.dimensions.ai/details/publication/pub.1077140365
    400 rdf:type schema:CreativeWork
    401 https://doi.org/10.1126/science.1124309 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004354120
    402 rdf:type schema:CreativeWork
    403 https://doi.org/10.1126/science.1181498 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014947319
    404 rdf:type schema:CreativeWork
    405 https://doi.org/10.1126/science.1186802 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020593399
    406 rdf:type schema:CreativeWork
    407 https://doi.org/10.1146/annurev-med-100708-204735 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031129648
    408 rdf:type schema:CreativeWork
    409 https://doi.org/10.1371/journal.pbio.0040072 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030948598
    410 rdf:type schema:CreativeWork
    411 https://doi.org/10.1371/journal.pbio.0050254 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028942453
    412 rdf:type schema:CreativeWork
    413 https://doi.org/10.1371/journal.pgen.0030090 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030508126
    414 rdf:type schema:CreativeWork
    415 https://doi.org/10.1371/journal.pgen.1000529 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043446290
    416 rdf:type schema:CreativeWork
    417 https://doi.org/10.1371/journal.pgen.1000840 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011416113
    418 rdf:type schema:CreativeWork
    419 https://doi.org/10.1534/genetics.108.094060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001728080
    420 rdf:type schema:CreativeWork
    421 https://www.grid.ac/institutes/grid.417068.c schema:alternateName Western General Hospital
    422 schema:name MRC Human Genetics Unit, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK
    423 rdf:type schema:Organization
    424 https://www.grid.ac/institutes/grid.4305.2 schema:alternateName University of Edinburgh
    425 schema:name Centre for Population Health Sciences, University of Edinburgh, Teviot Place, EH8 9AG, Edinburgh, UK
    426 Colon Cancer Genetics Group and Academic Coloproctology, Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU, Edinburgh, UK
    427 MRC Human Genetics Unit, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK
    428 rdf:type schema:Organization
    429 https://www.grid.ac/institutes/grid.4912.e schema:alternateName Royal College of Surgeons in Ireland
    430 schema:name Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin 2, Ireland
    431 rdf:type schema:Organization
    432 https://www.grid.ac/institutes/grid.7886.1 schema:alternateName University College Dublin
    433 schema:name Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland
    434 School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland
    435 School of Mathematical Sciences, University College Dublin, Belfield, Dublin 4, Ireland
    436 rdf:type schema:Organization
    437 https://www.grid.ac/institutes/grid.8217.c schema:alternateName Trinity College Dublin
    438 schema:name Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland
    439 rdf:type schema:Organization
     




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


    ...