Ontology type: schema:ScholarlyArticle Open Access: True
2012-10-31
AUTHORSGil A. McVean, David M. Altshuler (Co-Chair), Richard M. Durbin (Co-Chair), Gonçalo R. Abecasis, David R. Bentley, Aravinda Chakravarti, Andrew G. Clark, Peter Donnelly, Evan E. Eichler, Paul Flicek, Stacey B. Gabriel, Richard A. Gibbs, Eric D. Green, Matthew E. Hurles, Bartha M. Knoppers, Jan O. Korbel, Eric S. Lander, Charles Lee, Hans Lehrach, Elaine R. Mardis, Gabor T. Marth, Gil A. McVean, Deborah A. Nickerson, Jeanette P. Schmidt, Stephen T. Sherry, Jun Wang, Richard K. Wilson
ABSTRACTBy characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations. More... »
PAGES56-65
http://scigraph.springernature.com/pub.10.1038/nature11632
DOIhttp://dx.doi.org/10.1038/nature11632
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1000661742
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/23128226
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/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"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"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Alleles",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Binding Sites",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Conserved Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Evolution, Molecular",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Variation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetics, Medical",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetics, Population",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genome, Human",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genome-Wide Association Study",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genomics",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Haplotypes",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Nucleotide Motifs",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Single Nucleotide",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Racial Groups",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Sequence Deletion",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Transcription Factors",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Statistics, Oxford University, OX1 3TG, Oxford, UK",
"id": "http://www.grid.ac/institutes/grid.4991.5",
"name": [
"Wellcome Trust Centre for Human Genetics, Oxford University, OX3 7BN, Oxford, UK",
"Department of Statistics, Oxford University, OX1 3TG, Oxford, UK"
],
"type": "Organization"
},
"familyName": "McVean",
"givenName": "Gil A.",
"id": "sg:person.011530333464.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011530333464.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics, Harvard Medical School, 02142, Cambridge, Massachusetts, USA",
"id": "http://www.grid.ac/institutes/grid.38142.3c",
"name": [
"The Broad Institute of MIT and Harvard, 7 Cambridge Center, 02142, Cambridge, Massachusetts, USA",
"Center for Human Genetic Research, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA",
"Department of Genetics, Harvard Medical School, 02142, Cambridge, Massachusetts, USA"
],
"type": "Organization"
},
"familyName": "Altshuler (Co-Chair)",
"givenName": "David M.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Cambridge, UK",
"id": "http://www.grid.ac/institutes/grid.10306.34",
"name": [
"Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Durbin (Co-Chair)",
"givenName": "Richard M.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Center for Statistical Genetics, Biostatistics, University of Michigan, 48109, Ann Arbor, Michigan, USA",
"id": "http://www.grid.ac/institutes/grid.214458.e",
"name": [
"Center for Statistical Genetics, Biostatistics, University of Michigan, 48109, Ann Arbor, Michigan, USA"
],
"type": "Organization"
},
"familyName": "Abecasis",
"givenName": "Gon\u00e7alo R.",
"id": "sg:person.0641525362.39",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641525362.39"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Illumina United Kingdom, Chesterford Research Park, Little Chesterford, Near Saffron Walden, Essex CB10 1XL, UK.",
"id": "http://www.grid.ac/institutes/grid.434747.7",
"name": [
"Illumina United Kingdom, Chesterford Research Park, Little Chesterford, Near Saffron Walden, Essex CB10 1XL, UK."
],
"type": "Organization"
},
"familyName": "Bentley",
"givenName": "David R.",
"id": "sg:person.01106444027.55",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106444027.55"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA",
"id": "http://www.grid.ac/institutes/grid.21107.35",
"name": [
"McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA"
],
"type": "Organization"
},
"familyName": "Chakravarti",
"givenName": "Aravinda",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Center for Comparative and Population Genomics, Cornell University, 14850, Ithaca, New York, USA",
"id": "http://www.grid.ac/institutes/grid.5386.8",
"name": [
"Center for Comparative and Population Genomics, Cornell University, 14850, Ithaca, New York, USA"
],
"type": "Organization"
},
"familyName": "Clark",
"givenName": "Andrew G.",
"id": "sg:person.01072105370.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072105370.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Statistics, Oxford University, OX1 3TG, Oxford, UK",
"id": "http://www.grid.ac/institutes/grid.4991.5",
"name": [
"Wellcome Trust Centre for Human Genetics, Oxford University, OX3 7BN, Oxford, UK",
"Department of Statistics, Oxford University, OX1 3TG, Oxford, 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": "Department of Genome Sciences, University of Washington School of Medicine and Howard Hughes Medical Institute, 98195, Seattle, Washington, USA",
"id": "http://www.grid.ac/institutes/grid.34477.33",
"name": [
"Department of Genome Sciences, University of Washington School of Medicine and Howard Hughes Medical Institute, 98195, Seattle, Washington, USA"
],
"type": "Organization"
},
"familyName": "Eichler",
"givenName": "Evan E.",
"id": "sg:person.0705101106.89",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "European Bioinformatics Institute, Wellcome Trust Genome Campus, CB10 1SD, Cambridge, UK",
"id": "http://www.grid.ac/institutes/grid.225360.0",
"name": [
"European Bioinformatics Institute, Wellcome Trust Genome Campus, CB10 1SD, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Flicek",
"givenName": "Paul",
"id": "sg:person.0764542450.95",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764542450.95"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The Broad Institute of MIT and Harvard, 7 Cambridge Center, 02142, Cambridge, Massachusetts, USA",
"id": "http://www.grid.ac/institutes/grid.66859.34",
"name": [
"The Broad Institute of MIT and Harvard, 7 Cambridge Center, 02142, Cambridge, Massachusetts, USA"
],
"type": "Organization"
},
"familyName": "Gabriel",
"givenName": "Stacey B.",
"id": "sg:person.012151177437.05",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012151177437.05"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Baylor College of Medicine, Human Genome Sequencing Center, 77030, Houston, Texas, USA",
"id": "http://www.grid.ac/institutes/grid.39382.33",
"name": [
"Baylor College of Medicine, Human Genome Sequencing Center, 77030, Houston, Texas, USA"
],
"type": "Organization"
},
"familyName": "Gibbs",
"givenName": "Richard A.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "US National Institutes of Health, National Human Genome Research Institute, 31 Center Drive, Bethesda, Maryland 20892, USA.",
"id": "http://www.grid.ac/institutes/grid.280128.1",
"name": [
"US National Institutes of Health, National Human Genome Research Institute, 31 Center Drive, Bethesda, Maryland 20892, USA."
],
"type": "Organization"
},
"familyName": "Green",
"givenName": "Eric D.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Cambridge, UK",
"id": "http://www.grid.ac/institutes/grid.10306.34",
"name": [
"Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Hurles",
"givenName": "Matthew E.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre of Genomics and Policy, McGill University, Montr\u00e9al, H3A 1A4, Qu\u00e9bec, Canada",
"id": "http://www.grid.ac/institutes/grid.14709.3b",
"name": [
"Centre of Genomics and Policy, McGill University, Montr\u00e9al, H3A 1A4, Qu\u00e9bec, Canada"
],
"type": "Organization"
},
"familyName": "Knoppers",
"givenName": "Bartha M.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "European Molecular Biology Laboratory, Genome Biology Research Unit, Meyerhofstra\u00dfe 1, 69117 Heidelberg, Germany.",
"id": "http://www.grid.ac/institutes/grid.4709.a",
"name": [
"European Molecular Biology Laboratory, Genome Biology Research Unit, Meyerhofstra\u00dfe 1, 69117 Heidelberg, Germany."
],
"type": "Organization"
},
"familyName": "Korbel",
"givenName": "Jan O.",
"id": "sg:person.0772174216.94",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772174216.94"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The Broad Institute of MIT and Harvard, 7 Cambridge Center, 02142, Cambridge, Massachusetts, USA",
"id": "http://www.grid.ac/institutes/grid.66859.34",
"name": [
"The Broad Institute of MIT and Harvard, 7 Cambridge Center, 02142, Cambridge, Massachusetts, USA"
],
"type": "Organization"
},
"familyName": "Lander",
"givenName": "Eric S.",
"id": "sg:person.01260666165.62",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260666165.62"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pathology, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.",
"id": "http://www.grid.ac/institutes/grid.38142.3c",
"name": [
"Department of Pathology, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA."
],
"type": "Organization"
},
"familyName": "Lee",
"givenName": "Charles",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Dahlem Centre for Genome Research and Medical Systems Biology, D-14195, Berlin-Dahlem, Germany",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Max Planck Institute for Molecular Genetics, Ihnestra\u00dfe 63-73, 14195 Berlin, Germany.",
"Dahlem Centre for Genome Research and Medical Systems Biology, D-14195, Berlin-Dahlem, Germany"
],
"type": "Organization"
},
"familyName": "Lehrach",
"givenName": "Hans",
"id": "sg:person.01075662517.55",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075662517.55"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The Genome Center, Washington University School of Medicine, 63108, St Louis, Missouri, USA",
"id": "http://www.grid.ac/institutes/grid.4367.6",
"name": [
"The Genome Center, Washington University School of Medicine, 63108, St Louis, Missouri, USA"
],
"type": "Organization"
},
"familyName": "Mardis",
"givenName": "Elaine R.",
"id": "sg:person.015472226133.86",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015472226133.86"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Biology, Boston College, 02467, Chestnut Hill, Massachusetts, USA",
"id": "http://www.grid.ac/institutes/grid.208226.c",
"name": [
"Department of Biology, Boston College, 02467, Chestnut Hill, Massachusetts, USA"
],
"type": "Organization"
},
"familyName": "Marth",
"givenName": "Gabor T.",
"id": "sg:person.0617524562.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617524562.14"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Statistics, Oxford University, OX1 3TG, Oxford, UK",
"id": "http://www.grid.ac/institutes/grid.4991.5",
"name": [
"Department of Statistics, Oxford University, OX1 3TG, Oxford, UK"
],
"type": "Organization"
},
"familyName": "McVean",
"givenName": "Gil A.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genome Sciences, University of Washington School of Medicine, 98195, Seattle, Washington, USA",
"id": "http://www.grid.ac/institutes/grid.34477.33",
"name": [
"Department of Genome Sciences, University of Washington School of Medicine, 98195, Seattle, Washington, USA"
],
"type": "Organization"
},
"familyName": "Nickerson",
"givenName": "Deborah A.",
"id": "sg:person.011702707617.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011702707617.34"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Affymetrix, Inc., Santa, 95051, Clara, California, USA",
"id": "http://www.grid.ac/institutes/grid.418190.5",
"name": [
"Affymetrix, Inc., Santa, 95051, Clara, California, USA"
],
"type": "Organization"
},
"familyName": "Schmidt",
"givenName": "Jeanette P.",
"id": "sg:person.012154146260.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012154146260.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.",
"id": "http://www.grid.ac/institutes/grid.419234.9",
"name": [
"US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA."
],
"type": "Organization"
},
"familyName": "Sherry",
"givenName": "Stephen T.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Biology, University of Copenhagen, DK-2100, Copenhagen, Denmark",
"id": "http://www.grid.ac/institutes/grid.5254.6",
"name": [
"BGI-Shenzhen, 518083, Shenzhen, China",
"The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, DK-2200, Copenhagen, Denmark",
"Department of Biology, University of Copenhagen, DK-2100, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Wang",
"givenName": "Jun",
"id": "sg:person.011125677474.95",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011125677474.95"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The Genome Center, Washington University School of Medicine, 63108, St Louis, Missouri, USA",
"id": "http://www.grid.ac/institutes/grid.4367.6",
"name": [
"The Genome Center, Washington University School of Medicine, 63108, St Louis, Missouri, USA"
],
"type": "Organization"
},
"familyName": "Wilson",
"givenName": "Richard K.",
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/ng.1028",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017955952",
"https://doi.org/10.1038/ng.1028"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature09708",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034732435",
"https://doi.org/10.1038/nature09708"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature10808",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023552134",
"https://doi.org/10.1038/nature10808"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature11307",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011438914",
"https://doi.org/10.1038/nature11307"
],
"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": "sg:pub.10.1038/nature09534",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010608717",
"https://doi.org/10.1038/nature09534"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.694",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023718631",
"https://doi.org/10.1038/ng.694"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.566",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008807132",
"https://doi.org/10.1038/ng.566"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.976",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005954062",
"https://doi.org/10.1038/ng.976"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/gb-2011-12-9-r84",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012643182",
"https://doi.org/10.1186/gb-2011-12-9-r84"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg2764",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040880535",
"https://doi.org/10.1038/nrg2764"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/gm13",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014981379",
"https://doi.org/10.1186/gm13"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature10166",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000736346",
"https://doi.org/10.1038/nature10166"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.1074",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042693962",
"https://doi.org/10.1038/ng.1074"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature08516",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052442014",
"https://doi.org/10.1038/nature08516"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.733",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002345204",
"https://doi.org/10.1038/ng.733"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.768",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009850712",
"https://doi.org/10.1038/ng.768"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg3031",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047038706",
"https://doi.org/10.1038/nrg3031"
],
"type": "CreativeWork"
}
],
"datePublished": "2012-10-31",
"datePublishedReg": "2012-10-31",
"description": "By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38\u2009million single nucleotide polymorphisms, 1.4\u2009million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.",
"genre": "article",
"id": "sg:pub.10.1038/nature11632",
"inLanguage": "en",
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.2691287",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2529325",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2541469",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2757545",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2542378",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2392366",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2428977",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2774374",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2699329",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2439780",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2683889",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3639280",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691279",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691284",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691281",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2757227",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.8176503",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2681175",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2697606",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2705115",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2695830",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2503919",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2529357",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2669354",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3636172",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2551834",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2751334",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2669437",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.4970584",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2529480",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3638638",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691288",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2669359",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.5142883",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2345618",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3636942",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2438209",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2681169",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2436673",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2529158",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691278",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2355338",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2705215",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691282",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2529396",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2683812",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2481889",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2529243",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691311",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2438826",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2540181",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2699326",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2439795",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2759252",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2684984",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2516127",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2699330",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2392341",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3641662",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2691316",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1018957",
"issn": [
"0028-0836",
"1476-4687"
],
"name": "Nature",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "7422",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "491"
}
],
"keywords": [
"low-frequency variants",
"single nucleotide polymorphisms",
"genetic variation",
"rare non-coding variants",
"human genetic variation",
"nucleotide polymorphisms",
"non-coding variants",
"substantial geographic differentiation",
"evolutionary conservation",
"geographic differentiation",
"human genome",
"haplotype map",
"Genome Project",
"related populations",
"integrated map",
"short insertions",
"biological pathways",
"functional spectrum",
"large deletions",
"genetic contribution",
"common variants",
"genome",
"exome sequencing",
"different populations",
"deletion",
"key determinant",
"polymorphism",
"variants",
"population",
"sequencing",
"conservation",
"sites",
"differentiation",
"pathway",
"diverse data sources",
"selection",
"variation",
"individuals",
"insertion",
"hundreds",
"different profiles",
"maps",
"determinants",
"resources",
"consequences",
"action",
"profile",
"changes",
"disease",
"analysis",
"combination",
"source",
"contribution",
"information",
"frequency",
"spectra",
"method",
"data sources",
"project",
"strength",
"load",
"algorithm"
],
"name": "An integrated map of genetic variation from 1,092 human genomes",
"pagination": "56-65",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1000661742"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/nature11632"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"23128226"
]
}
],
"sameAs": [
"https://doi.org/10.1038/nature11632",
"https://app.dimensions.ai/details/publication/pub.1000661742"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-20T07:27",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_563.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1038/nature11632"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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/nature11632'
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/nature11632'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nature11632'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nature11632'
This table displays all metadata directly associated to this object as RDF triples.
622 TRIPLES
22 PREDICATES
123 URIs
97 LITERALS
24 BLANK NODES