Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
复制标题
DOI：
10.1038/sdata.2017.179
复制
发表时间：
2017-12-19
期刊：
影响因子：
9.8
通讯作者：
McCarthy MI
中科院分区：
文献类型：
--
作者：
Flannick J;Fuchsberger C;Mahajan A;Teslovich TM;Agarwala V;Gaulton KJ;Caulkins L;Koesterer R;Ma C;Moutsianas L;McCarthy DJ;Rivas MA;Perry JRB;Sim X;Blackwell TW;Robertson NR;Rayner NW;Cingolani P;Locke AE;Tajes JF;Highland HM;Dupuis J;Chines PS;Lindgren CM;Hartl C;Jackson AU;Chen H;Huyghe JR;van de Bunt M;Pearson RD;Kumar A;Müller-Nurasyid M;Grarup N;Stringham HM;Gamazon ER;Lee J;Chen Y;Scott RA;Below JE;Chen P;Huang J;Go MJ;Stitzel ML;Pasko D;Parker SCJ;Varga TV;Green T;Beer NL;Day-Williams AG;Ferreira T;Fingerlin T;Horikoshi M;Hu C;Huh I;Ikram MK;Kim BJ;Kim Y;Kim YJ;Kwon MS;Lee J;Lee S;Lin KH;Maxwell TJ;Nagai Y;Wang X;Welch RP;Yoon J;Zhang W;Barzilai N;Voight BF;Han BG;Jenkinson CP;Kuulasmaa T;Kuusisto J;Manning A;Ng MCY;Palmer ND;Balkau B;Stančáková A;Abboud HE;Boeing H;Giedraitis V;Prabhakaran D;Gottesman O;Scott J;Carey J;Kwan P;Grant G;Smith JD;Neale BM;Purcell S;Butterworth AS;Howson JMM;Lee HM;Lu Y;Kwak SH;Zhao W;Danesh J;Lam VKL;Park KS;Saleheen D;So WY;Tam CHT;Afzal U;Aguilar D;Arya R;Aung T;Chan E;Navarro C;Cheng CY;Palli D;Correa A;Curran JE;Rybin D;Farook VS;Fowler SP;Freedman BI;Griswold M;Hale DE;Hicks PJ;Khor CC;Kumar S;Lehne B;Thuillier D;Lim WY;Liu J;Loh M;Musani SK;Puppala S;Scott WR;Yengo L;Tan ST;Taylor HA;Thameem F;Wilson G;Wong TY;Njølstad PR;Levy JC;Mangino M;Bonnycastle LL;Schwarzmayr T;Fadista J;Surdulescu GL;Herder C;Groves CJ;Wieland T;Bork-Jensen J;Brandslund I;Christensen C;Koistinen HA;Doney ASF;Kinnunen L;Esko T;Farmer AJ;Hakaste L;Hodgkiss D;Kravic J;Lyssenko V;Hollensted M;Jørgensen ME;Jørgensen T;Ladenvall C;Justesen JM;Käräjämäki A;Kriebel J;Rathmann W;Lannfelt L;Lauritzen T;Narisu N;Linneberg A;Melander O;Milani L;Neville M;Orho-Melander M;Qi L;Qi Q;Roden M;Rolandsson O;Swift A;Rosengren AH;Stirrups K;Wood AR;Mihailov E;Blancher C;Carneiro MO;Maguire J;Poplin R;Shakir K;Fennell T;DePristo M;de Angelis MH;Deloukas P;Gjesing AP;Jun G;Nilsson P;Murphy J;Onofrio R;Thorand B;Hansen T;Meisinger C;Hu FB;Isomaa B;Karpe F;Liang L;Peters A;Huth C;O'Rahilly SP;Palmer CNA;Pedersen O;Rauramaa R;Tuomilehto J;Salomaa V;Watanabe RM;Syvänen AC;Bergman RN;Bharadwaj D;Bottinger EP;Cho YS;Chandak GR;Chan JC;Chia KS;Daly MJ;Ebrahim SB;Langenberg C;Elliott P;Jablonski KA;Lehman DM;Jia W;Ma RCW;Pollin TI;Sandhu M;Tandon N;Froguel P;Barroso I;Teo YY;Zeggini E;Loos RJF;Small KS;Ried JS;DeFronzo RA;Grallert H;Glaser B;Metspalu A;Wareham NJ;Walker M;Banks E;Gieger C;Ingelsson E;Im HK;Illig T;Franks PW;Buck G;Trakalo J;Buck D;Prokopenko I;Mägi R;Lind L;Farjoun Y;Owen KR;Gloyn AL;Strauch K;Tuomi T;Kooner JS;Lee JY;Park T;Donnelly P;Morris AD;Hattersley AT;Bowden DW;Collins FS;Atzmon G;Chambers JC;Spector TD;Laakso M;Strom TM;Bell GI;Blangero J;Duggirala R;Tai ES;McVean G;Hanis CL;Wilson JG;Seielstad M;Frayling TM;Meigs JB;Cox NJ;Sladek R;Lander ES;Gabriel S;Mohlke KL;Meitinger T;Groop L;Abecasis G;Scott LJ;Morris AP;Kang HM;Altshuler D;Burtt NP;Florez JC;Boehnke M;McCarthy MI
为了以高分辨率研究 2 型糖尿病 (T2D) 的遗传基础，GoT2D 和 T2D-GENES 联盟对 2,657 名欧洲个体的全基因组测序和 12,940 名多血统个体的外显子组测序的变异进行了编目。鉴定出超过 27M 个 SNP、插入缺失和结构变异，包括全基因组测序个体中 99% 的低频（次要等位基因频率 [MAF] 0.1-5%）非编码变异和全外显子组测序个体中 99.7% 的低频编码变异。在已测序的个体中测试了每种变异与 T2D 的关联，并且为了提高功效，大多数变异都在大量个体中进行了测试（通过外显子组芯片在约 82000 个欧洲人中测试了 >80% 的低频编码变异，通过基因型插补在约 44000 个欧洲人中测试了约 90% 的低频非编码变异）。这些分析中的变异、基因型和关联统计数据提供了迄今为止与 T2D 相关的人类遗传信息的最大参考，可用于诸如以 T2D 为中心的基因型插补、变异或基因的功能表征以及其他新分析等活动，以检测序列变异与 T2D 之间的关联。
To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1–5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
登录
查看更多内容
影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
30.8
作者：
Flannick, Jason;Thorleifsson, Gudmar;Beer, Nicola L.;Jacobs, Suzanne B. R.;Grarup, Niels;Burtt, Noel P.;Mahajan, Anubha;Fuchsberger, Christian;Atzmon, Gil;Benediktsson, Rafn;Blangero, John;Bowden, Don W.;Brandslund, Ivan;Brosnan, Julia;Burslem, Frank;Chambers, John;Cho, Yoon Shin;Christensen, Cramer;Douglas, Desiree A.;Duggirala, Ravindranath;Dymek, Zachary;Farjoun, Yossi;Fennell, Timothy;Fontanillas, Pierre;Forsen, Tom;Gabriel, Stacey;Glaser, Benjamin;Gudbjartsson, Daniel F.;Hanis, Craig;Hansen, Torben;Hreidarsson, Astradur B.;Hveem, Kristian;Ingelsson, Erik;Isomaa, Bo;Johansson, Stefan;Jorgensen, Torben;Jorgensen, Marit Eika;Kathiresan, Sekar;Kong, Augustine;Kooner, Jaspal;Kravic, Jasmina;Laakso, Markku;Lee, Jong-Young;Lind, Lars;Lindgren, Cecilia M.;Linneberg, Allan;Masson, Gisli;Meitinger, Thomas;Mohlke, Karen L.;Molven, Anders;Morris, Andrew P.;Potluri, Shobha;Rauramaa, Rainer;Ribel-Madsen, Rasmus;Richard, Ann-Marie;Rolph, Tim;Salomaa, Veikko;Segre, Ayellet V.;Skaerstrand, Hanna;Steinthorsdottir, Valgerdur;Stringham, Heather M.;Sulem, Patrick;Tai, E. Shyong;Teo, Yik Ying;Teslovich, Tanya;Thorsteinsdottir, Unnur;Trimmer, Jeff K.;Tuomi, Tiinamaija;Tuomilehto, Jaakko;Vaziri-Sani, Fariba;Voight, Benjamin F.;Wilson, James G.;Boehnke, Michael;McCarthy, Mark I.;Njolstad, Pal R.;Pedersen, Oluf;Groop, Leif;Cox, David R.;Stefansson, Kari;Altshuler, David
通讯作者：
Altshuler, David
影响因子：
64.8
作者：
Fuchsberger, Christian;Flannick, Jason;Teslovich, Tanya M.;Mahajan, Anubha;Agarwala, Vineeta;Gaulton, Kyle J.;Ma, Clement;Fontanillas, Pierre;Moutsianas, Loukas;McCarthy, Davis J.;Rivas, Manuel A.;Perry, John R. B.;Sim, Xueling;Blackwell, Thomas W.;Robertson, Neil R.;Rayner, N. William;Cingolani, Pablo;Locke, Adam E.;Tajes, Juan Fernandez;Highland, Heather M.;Dupuis, Josee;Chines, Peter S.;Lindgren, Cecilia M.;Hartl, Christopher;Jackson, Anne U.;Chen, Han;Huyghe, Jeroen R.;van de Bunt, Martijn;Pearson, Richard D.;Kumar, Ashish;Mueller-Nurasyid, Martina;Grarup, Niels;Stringham, Heather M.;Gamazon, Eric R.;Lee, Jaehoon;Chen, Yuhui;Scott, Robert A.;Below, Jennifer E.;Chen, Peng;Huang, Jinyan;Go, Min Jin;Stitzel, Michael L.;Pasko, Dorota;Parker, Stephen C. J.;Varga, Tibor V.;Green, Todd;Beer, Nicola L.;Day-Williams, Aaron G.;Ferreira, Teresa;Fingerlin, Tasha;Horikoshi, Momoko;Hu, Cheng;Huh, Iksoo;Ikram, Mohammad Kamran;Kim, Bong-Jo;Kim, Yongkang;Kim, Young Jin;Kwon, Min-Seok;Lee, Juyoung;Lee, Selyeong;Lin, Keng-Han;Maxwell, Taylor J.;Nagai, Yoshihiko;Wang, Xu;Welch, Ryan P.;Yoon, Joon;Zhang, Weihua;Barzilai, Nir;Voight, Benjamin F.;Han, Bok-Ghee;Jenkinson, Christopher P.;Kuulasmaa, Teemu;Kuusisto, Johanna;Manning, Alisa;Ng, Maggie C. Y.;Palmer, Nicholette D.;Balkau, Beverley;Stancakova, Alena;Abboud, Hanna E.;Boeing, Heiner;Giedraitis, Vilmantas;Prabhakaran, Dorairaj;Gottesman, Omri;Scott, James;Carey, Jason;Kwan, Phoenix;Grant, George;Smith, Joshua D.;Neale, Benjamin M.;Purcell, Shaun;Butterworth, Adam S.;Howson, Joanna M. M.;Lee, Heung Man;Lu, Yingchang;Kwak, Soo-Heon;Zhao, Wei;Danesh, John;Lam, Vincent K. L.;Park, Kyong Soo;Saleheen, Danish;So, Wing Yee;Tam, Claudia H. T.;Afzal, Uzma;Aguilar, David;Arya, Rector;Aung, Tin;Chan, Edmund;Navarro, Carmen;Cheng, Ching-Yu;Palli, Domenico;Correa, Adolfo;Curran, Joanne E.;Rybin, Denis;Farook, Vidya S.;Fowler, Sharon P.;Freedman, Barry I.;Griswold, Michael;Hale, Daniel Esten;Hicks, Pamela J.;Khor, Chiea-Chuen;Kumar, Satish;Lehne, Benjamin;Thuillier, Dorothee;Lim, Wei Yen;Liu, Jianjun;van der Schouw, Yvonne T.;Loh, Marie;Musani, Solomon K.;Puppala, Sobha;Scott, William R.;Yengo, Loic;Tan, Sian-Tsung;Taylor, Herman A., Jr.;Thameem, Farook;Wilson, Gregory, Sr.;Wong, Tien Yin;Njolstad, Pal Rasmus;Levy, Jonathan C.;Mangino, Massimo;Bonnycastle, Lori L.;Schwarzmayr, Thomas;Fadista, Joao;Surdulescu, Gabriela L.;Herder, Christian;Groves, Christopher J.;Wieland, Thomas;Bork-Jensen, Jette;Brandslund, Ivan;Christensen, Cramer;Koistinen, Heikki A.;Doney, Alex S. F.;Kinnunen, Leena;Esko, Tonu;Farmer, Andrew J.;Hakaste, Liisa;Hodgkiss, Dylan;Kravic, Jasmina;Lyssenko, Valeriya;Hollensted, Mette;Jorgensen, Marit E.;Jorgensen, Torben;Ladenvall, Claes;Justesen, Johanne Marie;Karajamaki, Annemari;Kriebel, Jennifer;Rathmann, Wolfgang;Lannfelt, Lars;Lauritzen, Torsten;Narisu, Narisu;Linneberg, Allan;Melander, Olle;Milani, Lili;Neville, Matt;Orho-Melander, Marju;Qi, Lu;Qi, Qibin;Roden, Michael;Rolandsson, Olov;Swift, Amy;Rosengren, Anders H.;Stirrups, Kathleen;Wood, Andrew R.;Mihailov, Evelin;Blancher, Christine;Carneiro, Mauricio O.;Maguire, Jared;Poplin, Ryan;Shakir, Khalid;Fennell, Timothy;DePristo, Mark;de Angelis, Martin Hrabe;Deloukas, Panos;Gjesing, Anette P.;Jun, Goo;Nilsson, Peter;Murphy, Jacquelyn;Onofrio, Robert;Thorand, Barbara;Hansen, Torben;Meisinger, Christa;Hu, Frank B.;Isomaa, Bo;Karpe, Fredrik;Liang, Liming;Peters, Annette;Huth, Cornelia;O'Rahilly, Stephen P.;Palmer, Colin N. A.;Pedersen, Oluf;Rauramaa, Rainer;Tuomilehto, Jaakko;Salomaa, Veikko;Watanabe, Richard M.;Syvanen, Ann-Christine;Bergman, Richard N.;Bharadwaj, Dwaipayan;Bottinger, Erwin P.;Cho, Yoon Shin;Chandak, Giriraj R.;Chan, Juliana C. N.;Chia, Kee Seng;Daly, Mark J.;Ebrahim, Shah B.;Langenberg, Claudia;Elliott, Paul;Jablonski, Kathleen A.;Lehman, Donna M.;Jia, Weiping;Ma, Ronald C. W.;Pollin, Toni I.;Sandhu, Manjinder;Tandon, Nikhil;Froguel, Philippe;Barroso, Ines;Teo, Yik Ying;Zeggini, Eleftheria;Loos, Ruth J. F.;Small, Kerrin S.;Ried, Janina S.;DeFronzo, Ralph A.;Grallert, Harald;Glaser, Benjamin;Metspalu, Andres;Wareham, Nicholas J.;Walker, Mark;Banks, Eric;Gieger, Christian;Ingelsson, Erik;Im, Hae Kyung;Illig, Thomas;Franks, Paul W.;Buck, Gemma;Trakalo, Joseph;Buck, David;Prokopenko, Inga;Magi, Reedik;Lind, Lars;Farjoun, Yossi;Owen, Katharine R.;Gloyn, Anna L.;Strauch, Konstantin;Tuomi, Tiinamaija;Kooner, Jaspal Singh;Lee, Jong-Young;Park, Taesung;Donnelly, Peter;Morris, Andrew D.;Hattersley, Andrew T.;Bowden, Donald W.;Collins, Francis S.;Atzmon, Gil;Chambers, John C.;Spector, Timothy D.;Laakso, Markku;Strom, Tim M.;Bell, Graeme I.;Blangero, John;Duggirala, Ravindranath;Tai, E. Shyong;McVean, Gilean;Hanis, Craig L.;Wilson, James G.;Seielstad, Mark;Frayling, Timothy M.;Meigs, James B.;Cox, Nancy J.;Sladek, Rob;Lander, Eric S.;Gabriel, Stacey;Burtt, Noel P.;Mohlke, Karen L.;Meitinger, Thomas;Groop, Leif;Abecasis, Goncalo;Florez, Jose C.;Scott, Laura J.;Morris, Andrew P.;Kang, Hyun Min;Boehnke, Michael;Altshuler, David;McCarthy, Mark I.
通讯作者：
McCarthy, Mark I.
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.