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

Jason, Flannick and Fuchsberger, Christian and Mahajan, Anubha and Teslovich, Tanya M. and Agarwala, Vineeta and Gaulton, Kyle J. and Caulkins, Lizz and Koesterer, Ryan and Ma, Clement and Moutsianas, Loukas and McCarthy, Davis J. and Rivas, Manuel A. and Perry, John R. B. and Sim, Xueling and Blackwell, Thomas W. and Robertson, Neil R. and Rayner, N. William and Cingolani, Pablo and Locke, Adam E. and Tajes, Juan Fernandez and Highland, Heather M. and Dupuis, Josee and Chines, Peter S. and Lindgren, Cecilia M. and Hartl, Christopher and Jackson, Anne U. and Chen, Han and Huyghe, Jeroen R. and van de Bunt, Martijn and Pearson, Richard D. and Kumar, Ashish and Müller-Nurasyid, Martina and Grarup, Niels and Stringham, Heather M. and Gamazon, Eric R. and Lee, Jaehoon and Chen, Yuhui and Scott, Robert A. and Below, Jennifer E. and Chen, Peng and Huang, Jinyan and Go, Min Jin and Stitzel, Michael L. and Pasko, Dorota and Parker, Stephen C. J. and Varga, Tibor V. and Green, Todd and Beer, Nicola L. and Day-Williams, Aaron G. and Ferreira, Teresa and Fingerlin, Tasha and Horikoshi, Momoko and Hu, Cheng and Huh, Iksoo and Ikram, Mohammad Kamran and Kim, Bong-Jo and Kim, Yongkang and Kim, Young Jin and Kwon, Min-Seok and Lee, Juyoung and Lee, Selyeong and Lin, Keng-Han and Maxwell, Taylor J. and Nagai, Yoshihiko and Wang, Xu and Welch, Ryan P. and Yoon, Joon and Zhang, Weihua and Barzilai, Nir and Voight, Benjamin F. and Han, Bok-Ghee and Jenkinson, Christopher P. and Kuulasmaa, Teemu and Kuusisto, Johanna and Manning, Alisa and Ng, Maggie C. Y. and Palmer, Nicholette D. and Balkau, Beverley and Stančáková, Alena and Abboud, Hanna E. and Boeing, Heiner and Giedraitis, Vilmantas and Prabhakaran, Dorairaj and Gottesman, Omri and Scott, James and Carey, Jason and Kwan, Phoenix and Grant, George and Smith, Joshua D. and Neale, Benjamin M. and Purcell, Shaun and Butterworth, Adam S. and Howson, Joanna M. M. and Lee, Heung Man and Lu, Yingchang and Kwak, Soo-Heon and Zhao, Wei and Danesh, John and Lam, Vincent K. L. and Park, Kyong Soo and Saleheen, Danish and So, Wing Yee and Tam, Claudia H. T. and Afzal, Uzma and Aguilar, David and Arya, Rector and Aung, Tin and Chan, Edmund and Navarro, Carmen and Cheng, Ching-Yu and Palli, Domenico and Correa, Adolfo and Curran, Joanne E. and Rybin, Dennis and Farook, Vidya S. and Fowler, Sharon P. and Freedman, Barry I. and Griswold, Michael and Hale, Daniel Esten and Hicks, Pamela J. and Khor, Chiea-Chuen and Kumar, Satish and Lehne, Benjamin and Thuillier, Dorothée and Lim, Wei Yen and Liu, Jianjun and Loh, Marie and Musani, Solomon K. and Puppala, Sobha and Scott, William R. and Yengo, Loïc and Tan, Sian-Tsung and Taylor, Herman A. and Thameem, Farook and Wilson, Gregory and Wong, Tien Yin and Njølstad, Pål Rasmus and Levy, Jonathan C. and Mangino, Massimo and Bonnycastle, Lori L. and Schwarzmayr, Thomas and Fadista, João and Surdulescu, Gabriela L. and Herder, Christian and Groves, Christopher J. and Wieland, Thomas and Bork-Jensen, Jette and Brandslund, Ivan and Christensen, Cramer and Koistinen, Heikki A. and Doney, Alex S. F. and Kinnunen, Leena and Esko, Tõnu and Farmer, Andrew J. and Hakaste, Liisa and Hodgkiss, Dylan and Kravic, Jasmina and Lyssenko, Valeri and Hollensted, Mette and Jørgensen, Marit E. and Jørgensen, Torben and Ladenvall, Claes and Justesen, Johanne Marie and Käräjämäki, Annemari and Kriebel, Jennifer and Rathmann, Wolfgang and Lannfelt, Lars and Lauritzen, Torsten and Narisu, Narisu and Linneberg, Allan and Melander, Olle and Milani, Lili and Neville, Matt and Orho-Melander, Marju and Qi, Lu and Qi, Qibin and Roden, Michael and Rolandsson, Olov and Swift, Amy and Rosengren, Anders H. and Stirrups, Kathleen and Wood, Andrew R. and Mihailov, Evelin and Blancher, Christine and Carneiro, Mauricio O. and Maguire, Jared and Poplin, Ryan and Shakir, Khalid and Fennell, Timothy and DePristo, Mark and de Angelis, Martin Hrabé and Deloukas, Panos and Gjesing, Anette P. and Jun, Goo and Nilsson, Peter and Murphy, Jacquelyn and Onofrio, Robert and Thorand, Barbara and Hansen, Torben and Meisinger, Christa and Hu, Frank B. and Isomaa, Bo and Karpe, Fredrik and Liang, Liming and Peters, Annette and Huth, Cornelia and O'Rahilly, Stephen P. and Palmer, Colin N. A. and Pedersen, Oluf and Rauramaa, Rainer and Tuomilehto, Jaakko and Salomaa, Veikko and Watanabe, Richard M. and Syvänen, Ann-Christine and Bergman, Richard N. and Bharadwaj, Dwaipayan and Bottinger, Erwin P. and Cho, Yoon Shin and Chandak, Giriraj R. and Chan, Juliana Cn and Chia, Kee Seng and Daly, Mark J. and Ebrahim, Shah B. and Langenberg, Claudia and Elliott, Paul and Jablonski, Kathleen A. and Lehman, Donna M. and Jia, Weiping and Ma, Ronald C. W. and Pollin, Toni I. and Sandhu, Manjinder and Tandon, Nikhil and Froguel, Philippe and Barroso, Inês and Teo, Yik Ying and Zeggini, Eleftheria and Loos, Ruth J. F. and Small, Kerrin S. and Ried, Janina S. and DeFronzo, Ralph A. and Grallert, Harald and Glaser, Benjamin and Metspalu, Andres and Wareham, Nicholas J. and Walker, Mark and Banks, Eric and Gieger, Christian and Ingelsson, Erik and Im, Hae Kyung and Illig, Thomas and Franks, Paul W. and Buck, Gemma and Trakalo, Joseph and Buck, David and Prokopenko, Inga and Mägi, Reedik and Lind, Lars and Farjoun, Yossi and Owen, Katharine R. and Gloyn, Anna L. and Strauch, Konstantin and Tuomi, Tiinamaija and Kooner, Jaspal Singh and Lee, Jong-Young and Park, Taesung and Donnelly, Peter and Morris, Andrew D. and Hattersley, Andrew T. and Bowden, Donald W. and Collins, Francis S. and Atzmon, Gil and Chambers, John C. and Spector, Timothy D. and Laakso, Markku and Strom, Tim M. and Bell, Graeme I. and Blangero, John and Duggirala, Ravindranath and Tai, E. Shyong and McVean, Gilean and Hanis, Craig L. and Wilson, James G. and Seielstad, Mark and Frayling, Timothy M. and Meigs, James B. and Cox, Nancy J. and Sladek, Rob and Lander, Eric S. and Gabriel, Stacey and Mohlke, Karen L. and Meitinger, Thomas and Groop, Leif and Abecasis, Goncalo and Scott, Laura J. and Morris, Andrew P. and Kang, Hyun Min and Altshuler, David and Burtt, Noël P. and Florez, Jose C. and Boehnke, Michael and McCarthy, Mark I.. (2017) Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data, 4. p. 170179.

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Official URL: http://edoc.unibas.ch/58341/

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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 ~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.
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
03 Faculty of Medicine > Departement Public Health > Sozial- und Präventivmedizin > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH)
UniBasel Contributors:Kumar, Ashish
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Springer Nature
e-ISSN:2052-4463
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:02 Feb 2018 10:14
Deposited On:02 Feb 2018 10:14

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