Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

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Flannick , J , Fuchsberger , C , Mahajan , A , Teslovich , T M , Agarwala , V , Gaulton , K J , Caulkins , L , Koesterer , R , Ma , C , Moutsianas , L , McCarthy , D J , Rivas , M A , Perry , J R B , Sim , X , Blackwell , T W , Robertson , N R , Rayner , N W , Cingolani , P , Locke , A E , Tajes , J F , Highland , H M , Dupuis , J , Chines , P S , Lindgren , C M , Hartl , C , Jackson , A U , Chen , H , Huyghe , J R , De Bunt , M V , Pearson , R D , Kumar , A , Muller-Nurasyid , M , Grarup , N , Stringham , H M , Gamazon , E R , Lee , J , Chen , Y , Scott , R A , Below , J E , Chen , P , Huang , J , Go , M J , Stitzel , M L , Pasko , D , Parker , S C J , Varga , T V , Green , T , Beer , N L , Day-Williams , A G , Ferreira , T , Fingerlin , T , Horikoshi , M , Hu , C , Huh , I , Ikram , M K , Kim , B-J , Kim , Y , Kim , Y J , Kwon , M-S , Lee , J , Lee , S , Lin , K-H , Maxwell , T J , Nagai , Y , Wang , X , Welch , R P , Yoon , J , Zhang , W , Barzilai , N , Voight , B F , Han , B-G , Jenkinson , C P , Kuulasmaa , T , Kuusisto , J , Manning , A , Ng , M C Y , Palmer , N D , Balkau , B , Stancakova , A , Abboud , H E , Boeing , H , Giedraitis , V , Prabhakaran , D , Gottesman , O , Scott , J , Carey , J , Kwan , P , Grant , G , Smith , J D , Neale , B M , Purcell , S , Butterworth , A S , Howson , J M M , Lee , H M , Lu , Y , Kwak , S-H , Zhao , W , Danesh , J , Lam , V K L , Park , K S , Saleheen , D , So , W Y , Tam , C H T , Afzal , U , Aguilar , D , Arya , R , Aung , T , Chan , E , Navarro , C , Cheng , C-Y , Palli , D , Correa , A , Curran , J E , Rybin , D , Farook , V S , Fowler , S P , Freedman , B I , Griswold , M , Hale , D E , Hicks , P J , Khor , C-C , Kumar , S , Lehne , B , Thuillier , D , Lim , W Y , Liu , J , Loh , M , Musani , S K , Puppala , S , Scott , W R , Yengo , L , Tan , S-T , Taylor , H A , Thameem , F , Wilson , G , Wong , T Y , Njolstad , P R , Levy , J C , Mangino , M , Bonnycastle , L L , Schwarzmayr , T , Fadista , J , Surdulescu , G L , Herder , C , Groves , C J , Wieland , T , Bork-Jensen , J , Brandslund , I , Christensen , C , Koistinen , H A , Doney , A S F , Kinnunen , L , Esko , T , Farmer , A J , Hakaste , L , Hodgkiss , D , Kravic , J , Lyssenko , V , Hollensted , M , Jorgensen , M E , Jorgensen , T , Ladenvall , C , Justesen , J M , Karajamaki , 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 , A H , Stirrups , K , Wood , A R , Mihailov , E , Blancher , C , Carneiro , M O , Maguire , J , Poplin , R , Shakir , K , Fennell , T , DePristo , M , De Angelis , M H , Deloukas , P , Gjesing , A P , Jun , G , Nilsson , P M , Murphy , J , Onofrio , R , Thorand , B , Hansen , T , Meisinger , C , Hu , F B , Isomaa , B , Karpe , F , Liang , L , Peters , A , Huth , C , O'Rahilly , S P , Palmer , C N A , Pedersen , O , Rauramaa , R , Tuomilehto , J , Salomaa , V , Watanabe , R M , Syvanen , A-C , Bergman , R N , Bharadwaj , D , Bottinger , E P , Cho , Y S , Chandak , G R , Chan , J C , Chia , K S , Daly , M J , Ebrahim , S B , Langenberg , C , Elliott , P , Jablonski , K A , Lehman , D M , Jia , W , Ma , R C , Pollin , T I , Sandhu , M , Tandon , N , Froguel , P , Barroso , I , Teo , Y Y , Zeggini , E , Loos , R J F , Small , K S , Ried , J S , DeFronzo , R A , Grallert , H , Glaser , B , Metspalu , A , Wareham , N J , Walker , M , Banks , E , Gieger , C , Ingelsson , E , Im , H K , Illig , T , Franks , P W , Buck , G , Trakalo , J , Buck , D , Prokopenko , I , Magi , R , Lind , L , Farjoun , Y , Owen , K R , Gloyn , A L , Strauch , K , Tuomi , T , Kooner , J S , Lee , J-Y , Park , T , Donnelly , P , Morris , A D , Hattersley , A T , Bowden , D W , Collins , F S , Atzmon , G , Chambers , J C , Spector , T D , Laakso , M , Strom , T M , Bell , G I , Blangero , J , Duggirala , R , Tai , ES , McVean , G , Hanis , C L , Wilson , J G , Seielstad , M , Frayling , T M , Meigs , J B , Cox , N J , Sladek , R , Lander , E S , Gabriel , S , Mohlke , K L , Meitinger , T , Groop , L , Abecasis , G , Scott , L J , Morris , A P , Kang , H M , Altshuler , D , Burtt , N P , Florez , J C , Boehnke , M & McCarthy , M I 2017 , ' Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls ' , Scientific data , vol. 4 , 170179 . https://doi.org/10.1038/sdata.2017.179

Title: Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Author: Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M.; Agarwala, Vineeta; Gaulton, Kyle J.; Caulkins, Lizz; Koesterer, Ryan; Ma, Clement; 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.; De Bunt, Martijn Van; Pearson, Richard D.; Kumar, Ashish; Muller-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, Dennis; 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; Loh, Marie; Musani, Solomon K.; Puppala, Sobha; Scott, William R.; Yengo, Loic; Tan, Sian-Tsung; Taylor, Herman A.; Thameem, Farook; Wilson, Gregory; 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 M.; 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 Cn; Chia, Kee Seng; Daly, Mark J.; Ebrahim, Shah B.; Langenberg, Claudia; Elliott, Paul; Jablonski, Kathleen A.; Lehman, Donna M.; Jia, Weiping; Ma, Ronald Cw; 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, EShyong; 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; Mohlke, Karen L.; Meitinger, Thomas; Groop, Leif; Abecasis, Goncalo; Scott, Laura J.; Morris, Andrew P.; Kang, Hyun Min; Altshuler, David; Burtt, Noel P.; Florez, Jose C.; Boehnke, Michael; McCarthy, Mark I.
Other contributor: University of Helsinki, Clinicum
University of Helsinki, Endokrinologian yksikkö
University of Helsinki, Danube Univ Krems, Ctr Vasc Prevent
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland







Date: 2017-12-19
Language: eng
Number of pages: 20
Belongs to series: Scientific data
ISSN: 2052-4463
DOI: https://doi.org/10.1038/sdata.2017.179
URI: http://hdl.handle.net/10138/231266
Abstract: 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 similar to 82 K Europeans via the exome chip, and similar to 90% of low-frequency non-coding variants in similar to 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.
Subject: GENOME-WIDE ASSOCIATION
RARE VARIANTS
GENETIC ARCHITECTURE
POPULATION-SCALE
COMMON DISEASES
FRAMEWORK
METAANALYSIS
IMPUTATION
MUTATIONS
DISCOVERY
3121 General medicine, internal medicine and other clinical medicine
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