http://hdl.handle.net/11693/38161
Resource Name:
http://hdl.handle.net/11693/38161
Resource Type:
Asset Name:
A global reference for human genetic variation
Title:
A global reference for human genetic variation
Author:
Auton A.
Abecasis G.R.
Altshuler D.M.
Durbin R.M.
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.
Boerwinkle E.
Doddapaneni H.
Han Y.
Korchina V.
Kovar C.
Lee S.
Muzny D.
Reid J.G.
Zhu Y.
Chang Y.
Feng Q.
Fang X.
Guo X.
Jian M.
Jiang H.
Jin X.
Lan T.
Li G.
Li J.
Li Y.
Liu S.
Liu X.
Lu Y.
Ma X.
Tang M.
Wang B.
Wang G.
Wu H.
Wu R.
Xu X.
Yin Y.
Zhang D.
Zhang W.
Zhao J.
Zhao M.
Zheng X.
Gupta N.
Gharani N.
Toji L.H.
Gerry N.P.
Resch A.M.
Barker J.
Clarke L.
Gil L.
Hunt S.E.
Kelman G.
Kulesha E.
Leinonen R.
McLaren W.M.
Radhakrishnan R.
Roa A.
Smirnov D.
Smith R.E.
Streeter I.
Thormann A.
Toneva I.
Vaughan B.
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.
Ananiev V.
Belaia Z.
Beloslyudtsev D.
Bouk N.
Chen C.
Church D.
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.
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.
Campbell C.L.
Kong Y.
Marcketta A.
Yu F.
Antunes L.
Bainbridge M.
Sabo A.
Huang Z.
Coin L.J.M.
Fang L.
Li Q.
Li Z.
Lin H.
Liu B.
Luo R.
Shao H.
Xie Y.
Ye C.
Yu C.
Zhang F.
Zheng H.
Zhu H.
Alkan C.
Dal E.
Kahveci F.
Garrison E.P.
Kural D.
Lee W.-P.
Leong W.F.
Stromberg M.
Ward A.N.
Wu J.
Zhang M.
Daly M.J.
DePristo M.A.
Handsaker R.E.
Banks E.
Bhatia G.
Del Angel G.
Genovese G.
Li H.
Kashin S.
McCarroll S.A.
Nemesh J.C.
Poplin R.E.
Yoon S.C.
Lihm J.
Makarov V.
Gottipati S.
Keinan A.
Rodriguez-Flores J.L.
Rausch T.
Fritz M.H.
Stütz A.M.
Beal K.
Datta A.
Herrero J.
Ritchie G.R.S.
Zerbino D.
Sabeti P.C.
Shlyakhter I.
Schaffner S.F.
Vitti J.
Cooper D.N.
Ball E.V.
Stenson P.D.
Barnes B.
Bauer M.
Cheetham R.K.
Cox A.
Eberle M.
Kahn S.
Murray L.
Peden J.
Shaw R.
Kenny E.E.
Batzer M.A.
Konkel M.K.
Walker J.A.
MacArthur D.G.
Lek M.
Herwig R.
Ding L.
Koboldt D.C.
Larson D.
Ye K.
Gravel S.
Swaroop A.
Chew E.
Lappalainen T.
Erlich Y.
Gymrek M.
Willems T.F.
Simpson J.T.
Shriver M.D.
Rosenfeld J.A.
Bustamante C.D.
Montgomery S.B.
De La Vega F.M.
Byrnes J.K.
Carroll A.W.
DeGorter M.K.
Lacroute P.
Maples B.K.
Martin A.R.
Moreno-Estrada A.
Shringarpure S.S.
Zakharia F.
Halperin E.
Baran Y.
Cerveira E.
Hwang J.
Malhotra A.
Plewczynski D.
Radew K.
Romanovitch M.
Zhang C.
Hyland F.C.L.
Craig D.W.
Christoforides A.
Homer N.
Izatt T.
Kurdoglu A.A.
Sinari S.A.
Squire K.
Xiao C.
Sebat J.
Antaki D.
Gujral M.
Noor A.
Burchard E.G.
Hernandez R.D.
Gignoux C.R.
Haussler D.
Katzman S.J.
Kent W.J.
Howie B.
Ruiz-Linares A.
Dermitzakis E.T.
Devine S.E.
Kang H.M.
Kidd J.M.
Blackwell T.
Caron S.
Chen W.
Emery S.
Fritsche L.
Fuchsberger C.
Jun G.
Li B.
Lyons R.
Scheller C.
Sidore C.
Song S.
Sliwerska E.
Taliun D.
Tan A.
Welch R.
Wing M.K.
Zhan X.
Awadalla P.
Hodgkinson A.
Shi X.
Quitadamo A.
Lunter G.
Marchini J.L.
Myers S.
Churchhouse C.
Delaneau O.
Gupta-Hinch A.
Kretzschmar W.
Iqbal Z.
Mathieson I.
Menelaou A.
Rimmer A.
Xifara D.K.
Oleksyk T.K.
Fu Y.
Xiong M.
Jorde L.
Witherspoon D.
Xing J.
Browning B.L.
Browning S.R.
Hormozdiari F.
Sudmant P.H.
Khurana E.
Tyler-Smith C.
Albers C.A.
Ayub Q.
Chen Y.
Colonna V.
Jostins L.
Walter K.
Xue Y.
Gerstein M.B.
Abyzov A.
Balasubramanian S.
Chen J.
Clarke D.
Harmanci A.O.
Jin M.
Lee D.
Liu J.
Mu X.J.
Zhang J.
Zhang Y.
Hartl C.
Shakir K.
Degenhardt J.
Meiers S.
Raeder B.
Casale F.P.
Stegle O.
Lameijer E.-W.
Hall I.
Bafna V.
Michaelson J.
Gardner E.J.
Mills R.E.
Dayama G.
Chen K.
Fan X.
Chong Z.
Chen T.
Chaisson M.J.
Huddleston J.
Malig M.
Nelson B.J.
Parrish N.F.
Blackburne B.
Lindsay S.J.
Ning Z.
Lam H.
Sisu C.
Challis D.
Evani U.S.
Lu J.
Nagaswamy U.
Yu J.
Li W.
Habegger L.
Yu H.
Cunningham F.
Dunham I.
Lage K.
Jespersen J.B.
Horn H.
Kim D.
Desalle R.
Narechania A.
Sayres M.A.W.
Mendez F.L.
Poznik G.D.
Underhill P.A.
Mittelman D.
Banerjee R.
Cerezo M.
Fitzgerald T.W.
Louzada S.
Massaia A.
Yang F.
Kalra D.
Hale W.
Dan X.
Barnes K.C.
Beiswanger C.
Cai H.
Cao H.
Henn B.
Jones D.
Kaye J.S.
Kent A.
Kerasidou A.
Mathias R.
Ossorio P.N.
Parker M.
Rotimi C.N.
Royal C.D.
Sandoval K.
Su Y.
Tian Z.
Tishkoff S.
Via M.
Wang Y.
Yang H.
Yang L.
Zhu J.
Bodmer W.
Bedoya G.
Cai Z.
Gao Y.
Chu J.
Peltonen L.
Garcia-Montero A.
Orfao A.
Dutil J.
Martinez-Cruzado J.C.
Mathias R.A.
Hennis A.
Watson H.
McKenzie C.
Qadri F.
LaRocque R.
Deng X.
Asogun D.
Folarin O.
Happi C.
Omoniwa O.
Stremlau M.
Tariyal R.
Jallow M.
Joof F.S.
Corrah T.
Rockett K.
Kwiatkowski D.
Kooner J.
Hien T.T.
Dunstan S.J.
ThuyHang N.
Fonnie R.
Garry R.
Kanneh L.
Moses L.
Schieffelin J.
Grant D.S.
Gallo C.
Poletti G.
Saleheen D.
Rasheed A.
Brooks L.D.
Felsenfeld A.L.
McEwen J.E.
Vaydylevich Y.
Duncanson A.
Dunn M.
Schloss J.A.
Subject:
ancestry
genetic variation
genomics
genotype
polymorphism
public health
demography
gene frequency
gene linkage disequilibrium
gene structure
genetic association
genetic variability
haplotype
human
human genetics
human genome
indel mutation
major clinical study
population genetics
population structure
priority journal
promoter region
quantitative trait locus
retroposon
Review
single nucleotide polymorphism
chromosome map
disease predisposition
DNA sequence
exome
genetics
high throughput sequencing
information processing
international cooperation
medical genetics
rare disease
standard
standards
Datasets as Topic
Disease Susceptibility
Genetics, Medical
Genetics, Population
Genome, Human
Genome-Wide Association Study
Haplotypes
High-Throughput Nucleotide Sequencing
Humans
Internationality
Physical Chromosome Mapping
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Rare Diseases
Reference Standards
Sequence Analysis, DNA
Description:
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. © 2015 Macmillan Publishers Limited. All rights reserved.
Publisher:
Nature Publishing Group
Date:
2018-04-12T13:48:51Z
2015
Type:
| Review |
Digital Format:
application/pdf
Identifier:
280836
http://hdl.handle.net/11693/38161
10.1038/nature15393
Source:
Nature
Source:
http://dx.doi.org/10.1038/nature15393
Media Type: