http://hdl.handle.net/11693/21285
Resource Name:
http://hdl.handle.net/11693/21285
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An integrated map of genetic variation from 1,092 human genomes
Title:
An integrated map of genetic variation from 1,092 human genomes
Author:
Altshuler, D.M.
Durbin, R.M.
Abecasis G.R.
Bentley, D.R.
Chakravarti, A.
Clark, A.G.
Donnelly P.
Eichler, E.E.
Flicek P.
Gabriel, S.B.
Gibbs, R.A.
Green, E.D.
Hurles, M.E.
Knoppers, B.M.
Korbel J.O.
Lander, E.S.
Lee, C.
Lehrach H.
Mardis, E.R.
Marth G.T.
McVean G.A.
Nickerson, D.A.
Schmidt J.P.
Sherry, S.T.
Wang J.
Wilson, R.K.
Dinh H.
Kovar, C.
Lee, S.
Lewis L.
Muzny, D.
Reid J.
Wang, M.
Fang X.
Guo X.
Jian, M.
Jiang H.
Jin X.
Li G.
Li J.
Li, Y.
Li, Z.
Liu X.
Lu, Y.
Ma X.
Su, Z.
Tai, S.
Tang, M.
Wang, B.
Wang G.
Wu H.
Wu, R.
Yin, Y.
Zhang W.
Zhao J.
Zhao, M.
Zheng X.
Zhou, Y.
Gupta, N.
Clarke L.
Leinonen, R.
Smith, R.E.
Zheng-Bradley X.
Grocock, R.
Humphray, S.
James, T.
Kingsbury, Z.
Sudbrak, R.
Albrecht, M.W.
Amstislavskiy V.S.
Borodina, T.A.
Lienhard, M.
Mertes F.
Sultan, M.
Timmermann, B.
Yaspo, M.-L.
Fulton L.
Fulton, R.
Weinstock G.M.
Balasubramaniam, S.
Burton J.
Danecek P.
Keane, T.M.
Kolb-Kokocinski, A.
McCarthy, S.
Stalker J.
Quail, M.
Davies, C.J.
Gollub J.
Webster, T.
Wong, B.
Zhan, Y.
Auton, A.
Yu F.
Bainbridge, M.
Challis, D.
Evani, U.S.
Lu J.
Nagaswamy, U.
Sabo, A.
Wang, Y.
Yu J.
Coin L.J.M.
Fang L.
Li Q.
Lin H.
Liu, B.
Luo, R.
Qin, N.
Shao H.
Xie, Y.
Ye, C.
Yu, C.
Zhang F.
Zheng H.
Zhu H.
Garrison, E.P.
Kural, D.
Lee W.-P.
Fung Leong W.
Ward, A.N.
Wu J.
Zhang, M.
Griffin L.
Hsieh, C.-H.
Mills, R.E.
Shi X.
Von Grotthuss, M.
Zhang, C.
Daly, M.J.
Depristo, M.A.
Banks, E.
Bhatia G.
Carneiro, M.O.
Del Angel G.
Genovese G.
Handsaker, R.E.
Hartl, C.
McCarroll, S.A.
Nemesh J.C.
Poplin, R.E.
Schaffner, S.F.
Shakir, K.
Yoon, S.C.
Lihm J.
Makarov V.
Jin H.
Kim W.
Cheol Kim, K.
Rausch, T.
Beal, K.
Cunningham F.
Herrero J.
McLaren W.M.
Ritchie G.R.S.
Gottipati, S.
Keinan, A.
Rodriguez-Flores J.L.
Sabeti P.C.
Grossman, S.R.
Tabrizi, S.
Tariyal, R.
Cooper, D.N.
Ball, E.V.
Stenson P.D.
Barnes, B.
Bauer, M.
Keira Cheetham, R.
Cox, T.
Eberle, M.
Kahn, S.
Murray L.
Peden J.
Shaw, R.
Ye, K.
Batzer, M.A.
Konkel, M.K.
Walker J.A.
MacArthur, D.G.
Lek, M.
Herwig, R.
Shriver, M.D.
Bustamante, C.D.
Byrnes J.K.
De La Vega F.M.
Gravel, S.
Kenny, E.E.
Kidd J.M.
Maples, B.K.
Moreno-Estrada, A.
Zakharia F.
Halperin, E.
Baran, Y.
Craig, D.W.
Christoforides, A.
Homer, N.
Izatt, T.
Kurdoglu, A.A.
Sinari, S.A.
Squire, K.
Xiao, C.
Sebat J.
Bafna V.
Burchard, E.G.
Hernandez, R.D.
Gignoux, C.R.
Haussler, D.
Katzman, S.J.
James Kent W.
Howie, B.
Ruiz-Linares, A.
Dermitzakis, E.T.
Lappalainen, T.
Devine, S.E.
Maroo, A.
Tallon L.J.
Rosenfeld J.A.
Michelson L.P.
Min Kang H.
Anderson P.
Angius, A.
Bigham, A.
Blackwell, T.
Busonero F.
Cucca F.
Fuchsberger, C.
Jones, C.
Jun G.
Lyons, R.
Maschio, A.
Porcu, E.
Reinier F.
Sanna, S.
Schlessinger, D.
Sidore, C.
Tan, A.
Kate Trost, M.
Awadalla P.
Hodgkinson, A.
Lunter G.
Marchini J.L.
Myers, S.
Churchhouse, C.
Delaneau O.
Gupta-Hinch, A.
Iqbal, Z.
Mathieson I.
Rimmer, A.
Xifara, D.K.
Oleksyk, T.K.
Fu, Y.
Xiong, M.
Jorde L.
Witherspoon, D.
Xing J.
Browning, B.L.
Alkan, C.
Hajirasouliha I.
Hormozdiari F.
Ko, A.
Sudmant P.H.
Chen, K.
Chinwalla, A.
Ding L.
Dooling, D.
Koboldt, D.C.
McLellan, M.D.
Wallis J.W.
Wendl, M.C.
Zhang Q.
Tyler-Smith, C.
Albers, C.A.
Ayub Q.
Chen, Y.
Coffey, A.J.
Colonna V.
Huang, N.
Jostins L.
Li H.
Scally, A.
Walter, K.
Xue, Y.
Zhang, Y.
Gerstein, M.B.
Abyzov, A.
Balasubramanian, S.
Chen J.
Clarke, D.
Habegger L.
Harmanci, A.O.
Jin, M.
Khurana, E.
Jasmine Mu X.
Sisu, C.
Degenhardt J.
Stütz, A.M.
Church, D.
Michaelson J.J.
Blackburne, B.
Lindsay, S.J.
Ning, Z.
Frankish, A.
Harrow J.
Mu X.J.
Fowler G.
Hale W.
Kalra, D.
Barker J.
Kelman G.
Kulesha, E.
Radhakrishnan, R.
Roa, A.
Smirnov, D.
Streeter I.
Toneva I.
Vaughan, B.
Ananiev V.
Belaia, Z.
Beloslyudtsev, D.
Bouk, N.
Chen, C.
Cohen, R.
Cook, C.
Garner J.
Hefferon, T.
Kimelman, M.
Liu, C.
Lopez J.
Meric P.
O'Sullivan, C.
Ostapchuk, Y.
Phan L.
Ponomarov, S.
Schneider V.
Shekhtman, E.
Sirotkin, K.
Slotta, D.
Zhang H.
Barnes, K.C.
Beiswanger, C.
Cai H.
Cao H.
Gharani, N.
Henn, B.
Jones, D.
Kaye J.S.
Kent, A.
Kerasidou, A.
Mathias, R.
Ossorio P.N.
Parker, M.
Reich, D.
Rotimi, C.N.
Royal, C.D.
Sandoval, K.
Su, Y.
Tian, Z.
Tishkoff, S.
Toji L.H.
Via, M.
Yang H.
Yang L.
Zhu J.
Bodmer W.
Bedoya G.
Ming, C.Z.
Yang G.
Jia You, C.
Peltonen L.
Garcia-Montero, A.
Orfao, A.
Dutil J.
Martinez-Cruzado J.C.
Brooks L.D.
Felsenfeld, A.L.
McEwen J.E.
Clemm, N.C.
Duncanson, A.
Dunn, M.
Guyer, M.S.
Peterson J.L.
Lacroute P.
Subject:
transcription factor
untranslated RNA
algorithm
evolutionary biology
genetic analysis
genetic variation
genomics
human evolution
integrated approach
map
natural selection
polymorphism
article
binding site
chromatin immunoprecipitation
exome
frameshift mutation
gain of function mutation
gene frequency
gene linkage disequilibrium
genetic association
genetic variability
genotype
haplotype map
human
human genome
human genome project
indel mutation
loss of function mutation
priority journal
single nucleotide polymorphism
Alleles
Binding Sites
Conserved Sequence
Continental Population Groups
Evolution, Molecular
Genetics, Medical
Genetics, Population
Genome, Human
Genome-Wide Association Study
Haplotypes
Humans
Nucleotide Motifs
Polymorphism, Single Nucleotide
Sequence Deletion
Transcription Factors
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 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. © 2012 Macmillan Publishers Limited. All rights reserved.
Date:
2016-02-08T09:44:15Z
2012
Type:
Article |
Digital Format:
application/pdf
Identifier:
280836
http://hdl.handle.net/11693/21285
10.1038/nature11632
Source:
Nature
Source:
http://dx.doi.org/10.1038/nature11632
Media Type: