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A global reference for human genetic variation

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dc.contributor.author 1000 Genomes Project
dc.contributor.author Auton, A.
dc.contributor.author Abecasis, G.R.
dc.contributor.author Altshuler, D.M.
dc.contributor.author Durbin, R.M.
dc.contributor.author Bentley, D.R.
dc.contributor.author Chakravarti, A.
dc.contributor.author Clark, A.G.
dc.contributor.author Donnelly, P.
dc.contributor.author Eichler, E.E.
dc.contributor.author Flicek, P.
dc.contributor.author Gabriel, S.B.
dc.contributor.author Gibbs, R.A.
dc.contributor.author Green, E.D.
dc.contributor.author Hurles, M.E.
dc.contributor.author Knoppers, B.M.
dc.contributor.author Korbel, J.O.
dc.contributor.author Lander, E.S.
dc.contributor.author Lee, C.
dc.contributor.author Lehrach, H.
dc.contributor.author Mardis, E.R.
dc.contributor.author Marth, G.T.
dc.contributor.author McVean, G.A.
dc.contributor.author Nickerson, D.A.
dc.contributor.author Schmidt, J.P.
dc.contributor.author Sherry, S.T.
dc.contributor.author Wang, J.
dc.contributor.author Wilson, R.K.
dc.contributor.author Boerwinkle, E.
dc.contributor.author Doddapaneni, H.
dc.contributor.author Han, Y.
dc.contributor.author Korchina, V.
dc.contributor.author Kovar, C.
dc.contributor.author Lee, S.
dc.contributor.author Muzny, D.
dc.contributor.author Reid, J.G.
dc.contributor.author Zhu, Y.
dc.contributor.author Chang, Y.
dc.contributor.author Feng, Q.
dc.contributor.author Fang, X.
dc.contributor.author Guo, X.
dc.contributor.author Jian, M.
dc.contributor.author Jiang, H.
dc.contributor.author Jin, X.
dc.contributor.author Lan, T.
dc.contributor.author Li, G.
dc.contributor.author Li, J.
dc.contributor.author Li, Y.
dc.contributor.author Liu, S.
dc.contributor.author Liu, X.
dc.contributor.author Lu, Y.
dc.contributor.author Ma, X.
dc.contributor.author Tang, M.
dc.contributor.author Wang, B.
dc.contributor.author Wang, G.
dc.contributor.author Wu, H.
dc.contributor.author Wu, R.
dc.contributor.author Xu, X.
dc.contributor.author Yin, Y.
dc.contributor.author Zhang, D.
dc.contributor.author Zhang, W.
dc.contributor.author Zhao, J.
dc.contributor.author Zhao, M.
dc.contributor.author Zheng, X.
dc.contributor.author Gupta, N.
dc.contributor.author Gharani, N.
dc.contributor.author Toji, L.H.
dc.contributor.author Gerry, N.P.
dc.contributor.author Resch, A.M.
dc.contributor.author Barker, J.
dc.contributor.author Clarke, L.
dc.contributor.author Gil, L.
dc.contributor.author Hunt, S.E.
dc.contributor.author Kelman, G.
dc.contributor.author Kulesha, E.
dc.contributor.author Leinonen, R.
dc.contributor.author McLaren, W.M.
dc.contributor.author Radhakrishnan, R.
dc.contributor.author Roa, A.
dc.contributor.author Smirnov, D.
dc.contributor.author Smith, R.E.
dc.contributor.author Streeter, I.
dc.contributor.author Thormann, A.
dc.contributor.author Toneva, I.
dc.contributor.author Vaughan, B.
dc.contributor.author Zheng-Bradley, X.
dc.contributor.author Grocock, R.
dc.contributor.author Humphray, S.
dc.contributor.author James, T.
dc.contributor.author Kingsbury, Z.
dc.contributor.author Sudbrak, R.
dc.contributor.author Albrecht, M.W.
dc.contributor.author Amstislavskiy, V.S.
dc.contributor.author Borodina, T.A.
dc.contributor.author Lienhard, M.
dc.contributor.author Mertes, F.
dc.contributor.author Sultan, M.
dc.contributor.author Timmermann, B.
dc.contributor.author Yaspo, M.-L.
dc.contributor.author Fulton, L.
dc.contributor.author Ananiev, V.
dc.contributor.author Belaia, Z.
dc.contributor.author Beloslyudtsev, D.
dc.contributor.author Bouk, N.
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dc.contributor.author Church, D.
dc.contributor.author Cohen, R.
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dc.contributor.author Hefferon, T.
dc.contributor.author Kimelman, M.
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dc.contributor.author Lopez, J.
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dc.contributor.author Yu, F.
dc.contributor.author Antunes, L.
dc.contributor.author Bainbridge, M.
dc.contributor.author Sabo, A.
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dc.contributor.author Fang, L.
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dc.contributor.author Liu, B.
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dc.contributor.author Lee, W.-P.
dc.contributor.author Leong, W.F.
dc.contributor.author Stromberg, M.
dc.contributor.author Ward, A.N.
dc.contributor.author Wu, J.
dc.contributor.author Zhang, M.
dc.contributor.author Daly, M.J.
dc.contributor.author DePristo, M.A.
dc.contributor.author Handsaker, R.E.
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dc.contributor.author Bhatia, G.
dc.contributor.author Del Angel, G.
dc.contributor.author Genovese, G.
dc.contributor.author Li, H.
dc.contributor.author Kashin, S.
dc.contributor.author McCarroll, S.A.
dc.contributor.author Nemesh, J.C.
dc.contributor.author Poplin, R.E.
dc.contributor.author Yoon, S.C.
dc.contributor.author Lihm, J.
dc.contributor.author Makarov, V.
dc.contributor.author Gottipati, S.
dc.contributor.author Keinan, A.
dc.contributor.author Rodriguez-Flores, J.L.
dc.contributor.author Rausch, T.
dc.contributor.author Fritz, M.H.
dc.contributor.author Stütz, A.M.
dc.contributor.author Beal, K.
dc.contributor.author Datta, A.
dc.contributor.author Herrero, J.
dc.contributor.author Ritchie, G.R.S.
dc.contributor.author Zerbino, D.
dc.contributor.author Sabeti, P.C.
dc.contributor.author Shlyakhter, I.
dc.contributor.author Schaffner, S.F.
dc.contributor.author Vitti, J.
dc.contributor.author Cooper, D.N.
dc.contributor.author Ball, E.V.
dc.contributor.author Stenson, P.D.
dc.contributor.author Barnes, B.
dc.contributor.author Bauer, M.
dc.contributor.author Cheetham, R.K.
dc.contributor.author Cox, A.
dc.contributor.author Eberle, M.
dc.contributor.author Kahn, S.
dc.contributor.author Murray, L.
dc.contributor.author Peden, J.
dc.contributor.author Shaw, R.
dc.contributor.author Kenny, E.E.
dc.contributor.author Batzer, M.A.
dc.contributor.author Konkel, M.K.
dc.contributor.author Walker, J.A.
dc.contributor.author MacArthur, D.G.
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dc.contributor.author Koboldt, D.C.
dc.contributor.author Larson, D.
dc.contributor.author Ye, K.
dc.contributor.author Gravel, S.
dc.contributor.author Swaroop, A.
dc.contributor.author Chew, E.
dc.contributor.author Lappalainen, T.
dc.contributor.author Erlich, Y.
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dc.contributor.author Willems, T.F.
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dc.contributor.author Shriver, M.D.
dc.contributor.author Rosenfeld, J.A.
dc.contributor.author Bustamante, C.D.
dc.contributor.author Montgomery, S.B.
dc.contributor.author De La Vega, F.M.
dc.contributor.author Byrnes, J.K.
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dc.contributor.author DeGorter, M.K.
dc.contributor.author Lacroute, P.
dc.contributor.author Maples, B.K.
dc.contributor.author Martin, A.R.
dc.contributor.author Moreno-Estrada, A.
dc.contributor.author Shringarpure, S.S.
dc.contributor.author Zakharia, F.
dc.contributor.author Halperin, E.
dc.contributor.author Baran, Y.
dc.contributor.author Cerveira, E.
dc.contributor.author Hwang, J.
dc.contributor.author Malhotra, A.
dc.contributor.author Plewczynski, D.
dc.contributor.author Radew, K.
dc.contributor.author Romanovitch, M.
dc.contributor.author Zhang, C.
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dc.contributor.author Christoforides, A.
dc.contributor.author Homer, N.
dc.contributor.author Izatt, T.
dc.contributor.author Kurdoglu, A.A.
dc.contributor.author Sinari, S.A.
dc.contributor.author Squire, K.
dc.contributor.author Xiao, C.
dc.contributor.author Sebat, J.
dc.contributor.author Antaki, D.
dc.contributor.author Gujral, M.
dc.contributor.author Noor, A.
dc.contributor.author Ye, K.
dc.contributor.author Burchard, E.G.
dc.contributor.author Hernandez, R.D.
dc.contributor.author Gignoux, C.R.
dc.contributor.author Haussler, D.
dc.contributor.author Katzman, S.J.
dc.contributor.author Kent, W.J.
dc.contributor.author Howie, B.
dc.contributor.author Ruiz-Linares, A.
dc.contributor.author Dermitzakis, E.T.
dc.contributor.author Devine, S.E.
dc.contributor.author Kang, H.M.
dc.contributor.author Kidd, J.M.
dc.contributor.author Blackwell, T.
dc.contributor.author Caron, S.
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dc.contributor.author Fuchsberger, C.
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dc.contributor.author Li, B.
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dc.contributor.author Sidore, C.
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dc.contributor.author Taliun, D.
dc.contributor.author Tan, A.
dc.contributor.author Welch, R.
dc.contributor.author Wing, M.K.
dc.contributor.author Zhan, X.
dc.contributor.author Awadalla, P.
dc.contributor.author Hodgkinson, A.
dc.contributor.author Li, Y.
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dc.contributor.author Blackburne, B.
dc.contributor.author Lindsay, S.J.
dc.contributor.author Ning, Z.
dc.contributor.author Zhang, Y.
dc.contributor.author Lam, H.
dc.contributor.author Sisu, C.
dc.contributor.author Challis, D.
dc.contributor.author Evani, U.S.
dc.contributor.author Lu, J.
dc.contributor.author Nagaswamy, U.
dc.contributor.author Yu, J.
dc.contributor.author Li, W.
dc.contributor.author Habegger, L.
dc.contributor.author Yu, H.
dc.contributor.author Cunningham, F.
dc.contributor.author Dunham, I.
dc.contributor.author Lage, K.
dc.contributor.author Jespersen, J.B.
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dc.contributor.author Kim, D.
dc.contributor.author Desalle, R.
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dc.contributor.author Sayres, M.A.W.
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dc.contributor.author Cai, Z.
dc.contributor.author Gao, Y.
dc.contributor.author Chu, J.
dc.contributor.author Peltonen, L.
dc.contributor.author Garcia-Montero, A.
dc.contributor.author Orfao, A.
dc.contributor.author Dutil, J.
dc.contributor.author Martinez-Cruzado, J.C.
dc.contributor.author Mathias, R.A.
dc.contributor.author Hennis, A.
dc.contributor.author Watson, H.
dc.contributor.author McKenzie, C.
dc.contributor.author Qadri, F.
dc.contributor.author LaRocque, R.
dc.contributor.author Deng, X.
dc.contributor.author Asogun, D.
dc.contributor.author Folarin, O.
dc.contributor.author Happi, C.
dc.contributor.author Omoniwa, O.
dc.contributor.author Stremlau, M.
dc.contributor.author Tariyal, R.
dc.contributor.author Jallow, M.
dc.contributor.author Joof, F.S.
dc.contributor.author Corrah, T.
dc.contributor.author Rockett, K.
dc.contributor.author Kwiatkowski, D.
dc.contributor.author Kooner, J.
dc.contributor.author Hien, T.T.
dc.contributor.author Dunstan, S.J.
dc.contributor.author ThuyHang, N.
dc.contributor.author Fonnie, R.
dc.contributor.author Garry, R.
dc.contributor.author Kanneh, L.
dc.contributor.author Moses, L.
dc.contributor.author Schieffelin, J.
dc.contributor.author Grant, D.S.
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, Giovanni
dc.contributor.author Saleheen, D.
dc.contributor.author Rasheed, A.
dc.contributor.author Brooks, L.D.
dc.contributor.author Felsenfeld, A.L.
dc.contributor.author McEwen, J.E.
dc.contributor.author Vaydylevich, Y.
dc.contributor.author Duncanson, A.
dc.contributor.author Dunn, M.
dc.contributor.author Schloss, J.A.
dc.date.accessioned 2019-02-22T14:55:29Z
dc.date.available 2019-02-22T14:55:29Z
dc.date.issued 2015
dc.identifier.uri https://hdl.handle.net/20.500.12866/5743
dc.description.abstract The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. en_US
dc.language.iso eng
dc.publisher Springer Nature
dc.relation.ispartofseries Nature
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Humans en_US
dc.subject Genetic Variation en_US
dc.subject Genetics, Population en_US
dc.subject Genotype en_US
dc.subject public health en_US
dc.subject Genome-Wide Association Study en_US
dc.subject Demography en_US
dc.subject human en_US
dc.subject priority journal en_US
dc.subject genetic variation en_US
dc.subject Quantitative Trait Loci en_US
dc.subject major clinical study en_US
dc.subject genotype en_US
dc.subject ancestry en_US
dc.subject polymorphism en_US
dc.subject human genome en_US
dc.subject population structure en_US
dc.subject genetics en_US
dc.subject quantitative trait locus en_US
dc.subject Internationality en_US
dc.subject Datasets as Topic en_US
dc.subject Sequence Analysis, DNA en_US
dc.subject Reference Standards en_US
dc.subject Polymorphism, Single Nucleotide en_US
dc.subject Genomics en_US
dc.subject Haplotypes en_US
dc.subject High-Throughput Nucleotide Sequencing en_US
dc.subject Rare Diseases en_US
dc.subject international cooperation en_US
dc.subject Review en_US
dc.subject DNA sequence en_US
dc.subject haplotype en_US
dc.subject single nucleotide polymorphism en_US
dc.subject genetic association en_US
dc.subject genetic variability en_US
dc.subject gene frequency en_US
dc.subject demography en_US
dc.subject genomics en_US
dc.subject rare disease en_US
dc.subject standard en_US
dc.subject standards en_US
dc.subject disease predisposition en_US
dc.subject information processing en_US
dc.subject population genetics en_US
dc.subject promoter region en_US
dc.subject gene structure en_US
dc.subject Genome, Human en_US
dc.subject high throughput sequencing en_US
dc.subject gene linkage disequilibrium en_US
dc.subject chromosome map en_US
dc.subject Disease Susceptibility en_US
dc.subject exome en_US
dc.subject Exome en_US
dc.subject Genetics, Medical en_US
dc.subject human genetics en_US
dc.subject indel mutation en_US
dc.subject INDEL Mutation en_US
dc.subject medical genetics en_US
dc.subject Physical Chromosome Mapping en_US
dc.subject retroposon en_US
dc.title A global reference for human genetic variation en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/nature15393
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.relation.issn 1476-4687


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