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A global reference for human genetic variation

Title
A global reference for human genetic variation
Authors
Altshuler, David M.Durbin, Richard M.Abecasis, Goncalo R.Bentley, David R.Chakravarti, AravindaClark, Andrew G.Donnelly, PeterEichler, Evan E.Flicek, PaulGabriel, Stacey B.Gibbs, Richard A.Green, Eric D.Hurles, Matthew E.Knoppers, Bartha M.Korbel, Jan O.Lander, Eric S.Lee, CharlesLehrach, HansMardis, Elaine R.Marth, Gabor T.McVean, Gil A.Nickerson, Deborah A.Schmidt, Jeanette P.Sherry, Stephen T.Wang, JunWilson, Richard K.Boerwinkle, EricDoddapaneni, HarshaHan, YiKorchina, ViktoriyaKovar, ChristieLee, SandraMuzny, DonnaReid, Jeffrey G.Zhu, YimingChang, YuqiFeng, QiangFang, XiaodongGuo, XiaosenJian, MinJiang, HuiJin, XinLan, TianmingLi, GuoqingLi, JingxiangLi, YingruiLiu, ShengmaoLiu, XiaoLu, YaoMa, XuediTang, MeifangWang, BoWang, GuangbiaoWu, HonglongWu, RenhuaXu, XunYin, YeZhang, DandanZhang, WenweiZhao, JiaoZhao, MeiruZheng, XiaoleGupta, NamrataGharani, NedaToji, Lorraine H.Gerry, Norman P.Resch, Alissa M.Barker, JonathanClarke, LauraGil, LaurentHunt, Sarah E.Kelman, GavinKulesha, EugeneLeinonen, RaskoMcLaren, William M.Radhakrishnan, RajeshRoa, AsierSmirnov, DmitriySmith, Richard E.Streeter, IanThormann, AnjaToneva, IlianaVaughan, BrendanZheng-Bradley, XiangqunGrocock, RussellHumphray, SeanJames, TerenaKingsbury, ZoyaSudbrak, RalfAlbrecht, Marcus W.Amstislavskiy, Vyacheslav S.Borodina, Tatiana A.Lienhard, MatthiasMertes, FlorianSultan, MarcTimmermann, BerndYaspo, Marie-LaureFulton, LucindaFulton, RobertAnaniev, VictorBelaia, ZinaidaBeloslyudtsev, DimitriyBouk, NathanChen, ChaoChurch, DeannaCohen, RobertCook, CharlesGarner, JohnHefferon, TimothyKimelman, MikhailLiu, ChunleiLopez, JohnMeric, PeterO'Sullivan, ChrisOstapchuk, YuriPhan, LonPonomarov, SergiySchneider, ValerieShekhtman, EugeneSirotkin, KarlSlotta, DouglasZhang, HuaBalasubramaniam, SenduranBurton, JohnDanecek, PetrKeane, Thomas M.Kolb-Kokocinski, AnjaMcCarthy, ShaneStalker, JamesQuail, MichaelDavies, Christopher J.Gollub, JeremyWebster, TeresaWong, BrantZhan, YipingAuton, AdamCampbell, Christopher L.Kong, YuMarcketta, AnthonyYu, FuliAntunes, LilianBainbridge, MatthewSabo, AnikoHuang, ZhuoyiCoin, Lachlan J. M.Fang, LinLi, QibinLi, ZhenyuLin, HaoxiangLiu, BinghangLuo, RuibangShao, HaojingXie, YinlongYe, ChenYu, ChangZhang, FanZheng, HanchengZhu, HongmeiAlkan, CanDal, ElifKahveci, FatmaGarrison, Erik P.Kural, DenizLee, Wan-PingLeong, Wen FungStromberg, MichaelWard, Alistair N.Wu, JiantaoZhang, MengyaoDaly, Mark J.DePristo, Mark A.Handsaker, Robert E.Banks, EricBhatia, Gauravdel Angel, GuillermoGenovese, GiulioLi, HengKashin, SevaMcCarroll, Steven A.Nemesh, James C.Poplin, Ryan E.Yoon, Seungtai C.Lihm, JayonMakarov, VladimirGottipati, SrikanthKeinan, AlonRodriguez-Flores, Juan L.Rausch, TobiasFritz, Markus H.Stuetz, Adrian M.Beal, KathrynDatta, AvikHerrero, JavierRitchie, Graham R. S.Zerbino, DanielSabeti, Pardis C.Shlyakhter, IlyaSchaffner, Stephen F.Vitti, JosephCooper, David N.Ball, Edward V.Stenson, Peter D.Barnes, BretBauer, MarkusCheetham, R. KeiraCox, AnthonyEberle, MichaelKahn, ScottMurray, LisaPeden, JohnShaw, RichardKenny, Eimear E.Batzer, Mark A.Konkel, Miriam K.Walker, Jerilyn A.MacArthur, Daniel G.Lek, MonkolHerwig, RalfDing, LiKoboldt, Daniel C.Larson, DavidYe, KaiGravel, SimonSwaroop, AnandChew, EmilyLappalainen, TuuliErlich, YanivGymrek, MelissaWillems, Thomas FrederickSimpson, Jared T.Shriver, Mark D.Rosenfeld, Jeffrey A.Bustamante, Carlos D.Montgomery, Stephen B.De La Vega, Francisco M.Byrnes, Jake K.Carroll, Andrew W.DeGorter, Marianne K.Lacroute, PhilMaples, Brian K.Martin, Alicia R.Moreno-Estrada, AndresShringarpure, Suyash S.Zakharia, FouadHalperin, EranBaran, YaelCerveira, ElizaHwang, JaehoMalhotra, AnkitPlewczynski, DariuszRadew, KamenRomanovitch, MalloryZhang, ChengshengHyland, Fiona C. L.Craig, David W.Christoforides, AlexisHomer, NilsIzatt, TylerKurdoglu, Ahmet A.Sinari, Shripad A.Squire, KevinXiao, ChunlinSebat, JonathanAntaki, DannyGujral, MadhusudanNoor, AminaYe, KennyBurchard, Esteban G.Hernandez, Ryan D.Gignoux, Christopher R.Haussler, DavidKatzman, Sol J.Kent, W. JamesHowie, BryanRuiz-Linares, AndresDermitzakis, Emmanouil T.Devine, Scott E.Goncalo, R. AbecasisKang, Hyun MinKidd, Jeffrey M.Blackwell, TomCaron, SeanChen, WeiEmery, SarahFritsche, LarsFuchsberger, ChristianJun, GooLi, BingshanLyons, RobertScheller, ChrisSidore, CarloSong, ShiyaSliwerska, ElzbietaTaliun, DanielTan, AdrianWelch, RyanWing, Mary KateZhan, XiaoweiAwadalla, PhilipHodgkinson, AlanLi, YunShi, XinghuaQuitadamo, AndrewLunter, GertonMarchini, Jonathan L.Myers, SimonChurchhouse, ClaireDelaneau, OlivierGupta-Hinch, AnjaliKretzschmar, WarrenIqbal, ZaminMathieson, IainMenelaou, AndronikiRimmer, AndyXifara, Dionysia K.Oleksyk, Taras K.Fu, YunxinLiu, XiaomingXiong, MomiaoJorde, LynnWitherspoon, DavidXing, JinchuanBrowning, Brian L.Browning, Sharon R.Hormozdiari, FereydounSudmant, Peter H.Khurana, EktaTyler-Smith, ChrisAlbers, Cornelis A.Ayub, QasimChen, YuanColonna, VincenzaJostins, LukeWalter, KlaudiaXue, YaliGerstein, Mark B.Abyzov, AlexejBalasubramanian, SuganthiChen, JiemingClarke, DeclanFu, YaoHarmanci, Arif O.Jin, MikeLee, DonghoonLiu, JeremyMu, Xinmeng JasmineZhang, JingZhang, YanDel Angel, GuillermoHartl, ChrisShakir, KhalidDegenhardt, JeremiahMeiers, SaschaRaeder, BenjaminCasale, Francesco PaoloStegle, OliverLameijer, Eric-WubboHall, IraBafna, VineetMichaelson, JacobGardner, Eugene J.Mills, Ryan E.Dayama, GargiChen, KenFan, XianChong, ZechenChen, TenghuiChaisson, Mark J.Huddleston, JohnMalig, MaikaNelson, Bradley J.Parrish, Nicholas F.Blackburne, BenLindsay, Sarah J.Ning, ZeminZhang, YujunLam, HugoSisu, CristinaChallis, DannyEvani, Uday S.Lu, JamesNagaswamy, UmaYu, JinLi, WangshenAbecasis, Gonalo R.Habegger, LukasYu, HaiyuanCunningham, FionaDunham, IanLage, KasperJespersen, Jakob BergHorn, HeikoKim, DonghoonDesalle, RobNarechania, ApurvaSayres, Melissa A. WilsonMendez, Fernando L.Poznik, G. DavidUnderhill, Peter A.Coin, LachlanMittelman, DavidBanerjee, RubyCerezo, MariaFitzgerald, ThomasW.Louzada, SandraMassaia, AndreaRitchie, Graham R.Yang, FengtangKalra, DivyaHale, WalkerDan, XuBarnes, Kathleen C.Beiswanger, ChristineCai, HongyuCao, HongzhiHenn, BrennaJones, DanielleKaye, Jane S.Kent, AlastairKerasidou, AngelikiMathias, RasikaOssorio, Pilar N.Parker, MichaelRotimi, Charles N.Royal, Charmaine D.Sandoval, KarlaSu, YeyangTian, ZhongmingTishkoff, SarahVia, MarcWang, YuhongYang, HuanmingYang, LingZhu, JiayongBodmer, WalterBedoya, GabrielCai, ZhimingGao, YangChu, JiayouPeltonen, LeenaGarcia-Montero, AndresOrfao, AlbertoDutil, JulieMartinez-Cruzado, Juan C.Mathias, Rasika A.Hennis, AnselmWatson, HaroldMcKenzie, ColinQadri, FirdausiLaRocque, ReginaDeng, XiaoyanAsogun, DannyFolarin, OnikepeHappi, ChristianOmoniwa, OmonwunmiStremlau, MattTariyal, RidhiJallow, MuminatouJoof, Fatoumatta SisayCorrah, TumaniRockett, KirkKwiatkowski, DominicKooner, JaspalTran Tinh HienDunstan, Sarah J.Nguyen Thuy HangFonnie, RichardGarry, RobertKanneh, LansanaMoses, LinaSchieffelin, JohnGrant, Donald S.Gallo, CarlaPoletti, GiovanniSaleheen, DanishRasheed, AsifBrook, Lisa D.Felsenfeld, Adaml.McEwen, Jean E.Vaydylevich, YekaterinaDuncanson, AudreyDunn, MichaelSchloss, Jeffery A.Brooks, Lisa D.Genomes Project Consortium
Ewha Authors
Charles Lee
SCOPUS Author ID
Charles Leescopus
Issue Date
2015
Journal Title
NATURE
ISSN
0028-0836JCR Link1476-4687JCR Link
Citation
vol. 526, no. 7571, pp. 68 - +
Publisher
NATURE PUBLISHING GROUP
Indexed
SCI; SCIE; SCOPUS WOS scopus
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.
DOI
10.1038/nature15393
Appears in Collections:
일반대학원 > 생명과학과 > Journal papers
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