data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Jason Flannick; Christian Fuchsberger; Anubha Mahajan; Tanya M. Teslovich; Vineeta Agarwala; Kyle J. Gaulton; Lizz Caulkins; Ryan Koesterer; Clement Ma; Loukas Moutsianas; Davis J. McCarthy; Manuel A. Rivas; John R. B. Perry; Xueling Sim; Thomas W. Blackwell; Neil R. Robertson; N. William Rayner; Pablo Cingolani; Adam E. Locke; Juan Fernandez Tajes; Heather M. Highland; Josee Dupuis; Peter S. Chines; Cecilia M. Lindgren; Christopher Hartl; Anne U. Jackson; Han Chen; Jeroen R. Huyghe; Martijn Van De Bunt; Richard D. Pearson; Ashish Kumar; Martina Muller-Nurasyid; Niels Grarup; Heather M. Stringham; Eric R. Gamazon; Jaehoon Lee; Yuhui Chen; Robert A. Scott; Jennifer E. Below; Peng Chen; Jinyan Huang; Min Jin Go; Michael L. Stitzel; Dorota Pasko; Stephen C. J. Parker; Tibor V. Varga; Todd Green; Nicola L. Beer; Aaron G. Day-Williams; Teresa Ferreira; Tasha Fingerlin; Momoko Horikoshi; Cheng Hu; Iksoo Huh; Mohammad Kamran Ikram; Bong-Jo Kim; Yongkang Kim; Young Jin Kim; Min-Seok Kwon; Juyoung Lee; Selyeong Lee; Keng-Han Lin; Taylor J. Maxwell; Yoshihiko Nagai; Xu Wang; Ryan P. Welch; Joon Yoon; Weihua Zhang; Nir Barzilai; Benjamin F. Voight; Bok-Ghee Han; Christopher P. Jenkinson; Teemu Kuulasmaa; Johanna Kuusisto; Alisa Manning; Maggie C. Y. Ng; Nicholette D. Palmer; Beverley Balkau; Alena Stancakova; Hanna E. Abboud; Heiner Boeing; Vilmantas Giedraitis; Dorairaj Prabhakaran; Omri Gottesman; James Scott; Jason Carey; Phoenix Kwan; George Grant; Joshua D. Smith; Benjamin M. Neale; Shaun Purcell; Adam S. Butterworth; Joanna M. M. Howson; Heung Man Lee; Yingchang Lu; Soo-Heon Kwak; Wei Zhao; John Danesh; Vincent K. L. Lam; Kyong Soo Park; Danish Saleheen; Wing Yee So; Claudia H. T. Tam; Uzma Afzal; David Aguilar; Rector Arya; Tin Aung; Edmund Chan; Carmen Navarro; Ching-Yu Cheng; Domenico Palli; Adolfo Correa; Joanne E. Curran; Dennis Rybin; Vidya S. Farook; Sharon P. Fowler; Barry I. Freedman; Michael Griswold; Daniel Esten Hale; Pamela J. Hicks; Chiea-Chuen Khor; Satish Kumar; Benjamin Lehne; Dorothee Thuillier; Wei Yen Lim; Jianjun Liu; Marie Loh; Solomon K. Musani; Sobha Puppala; William R. Scott; Loic Yengo; Sian-Tsung Tan; Herman A. Taylor; Farook Thameem; Gregory Wilson; Tien Yin Wong; Pal Rasmus Njolstad; Jonathan C. Levy; Massimo Mangino; Lori L. Bonnycastle; Thomas Schwarzmayr; Joao Fadista; Gabriela L. Surdulescu; Christian Herder; Christopher J. Groves; Thomas Wieland; Jette Bork-Jensen; Ivan Brandslund; Cramer Christensen; Heikki A. Koistinen; Alex S. F. Doney; Leena Kinnunen; Tonu Esko; Andrew J. Farmer; Liisa Hakaste; Dylan Hodgkiss; Jasmina Kravic; Valeriya Lyssenko; Mette Hollensted; Marit E. Jorgensen; Torben Jorgensen; Claes Ladenvall; Johanne Marie Justesen; Annemari Karajamaki; Jennifer Kriebel; Wolfgang Rathmann; Lars Lannfelt; Torsten Lauritzen; Narisu Narisu; Allan Linneberg; Olle Melander; Lili Milani; Matt Neville; Marju Orho-Melander; Lu Qi; Qibin Qi; Michael Roden; Olov Rolandsson; Amy Swift; Anders H. Rosengren; Kathleen Stirrups; Andrew R. Wood; Evelin Mihailov; Christine Blancher; Mauricio O. Carneiro; Jared Maguire; Ryan Poplin; Khalid Shakir; Timothy Fennell; Mark DePristo; Martin Hrabe de Angelis; Panos Deloukas; Anette P. Gjesing; Goo Jun; Peter M. Nilsson; Jacquelyn Murphy; Robert Onofrio; Barbara Thorand; Torben Hansen; Christa Meisinger; et al.

doi:10.1038/sdata.2017.179

data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M. Teslovich, Vineeta Agarwala, Kyle J. Gaulton, Lizz Caulkins, Ryan Koesterer, Clement Ma, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R. B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, N. William Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernandez TajesHeather M. Highland, Josee Dupuis, Peter S. Chines, Cecilia M. Lindgren, Christopher Hartl, Anne U. Jackson, Han Chen, Jeroen R. Huyghe, Martijn Van De Bunt, Richard D. Pearson, Ashish Kumar, Martina Muller-Nurasyid, Niels Grarup, Heather M. Stringham, Eric R. Gamazon, Jaehoon Lee, Yuhui Chen, Robert A. Scott, Jennifer E. Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L. Stitzel, Dorota Pasko, Stephen C. J. Parker, Tibor V. Varga, Todd Green, Nicola L. Beer, Aaron G. Day-Williams, Teresa Ferreira, Tasha Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, Mohammad Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min-Seok Kwon, Juyoung Lee, Selyeong Lee, Keng-Han Lin, Taylor J. Maxwell, Yoshihiko Nagai, Xu Wang, Ryan P. Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F. Voight, Bok-Ghee Han, Christopher P. Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa Manning, Maggie C. Y. Ng, Nicholette D. Palmer, Beverley Balkau, Alena Stancakova, Hanna E. Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D. Smith, Benjamin M. Neale, Shaun Purcell, Adam S. Butterworth, Joanna M. M. Howson, Heung Man Lee, Yingchang Lu, Soo-Heon Kwak, Wei Zhao, John Danesh, Vincent K. L. Lam, Kyong Soo Park, Danish Saleheen, Wing Yee So, Claudia H. T. Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching-Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E. Curran, Dennis Rybin, Vidya S. Farook, Sharon P. Fowler, Barry I. Freedman, Michael Griswold, Daniel Esten Hale, Pamela J. Hicks, Chiea-Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothee Thuillier, Wei Yen Lim, Jianjun Liu, Marie Loh, Solomon K. Musani, Sobha Puppala, William R. Scott, Loic Yengo, Sian-Tsung Tan, Herman A. Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pal Rasmus Njolstad, Jonathan C. Levy, Massimo Mangino, Lori L. Bonnycastle, Thomas Schwarzmayr, Joao Fadista, Gabriela L. Surdulescu, Christian Herder, Christopher J. Groves, Thomas Wieland, Jette Bork-Jensen, Ivan Brandslund, Cramer Christensen, Heikki A. Koistinen, Alex S. F. Doney, Leena Kinnunen, Tonu Esko, Andrew J. Farmer, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravic, Valeriya Lyssenko, Mette Hollensted, Marit E. Jorgensen, Torben Jorgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Karajamaki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt Neville, Marju Orho-Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy Swift, Anders H. Rosengren, Kathleen Stirrups, Andrew R. Wood, Evelin Mihailov, Christine Blancher, Mauricio O. Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy Fennell, Mark DePristo, Martin Hrabe de Angelis, Panos Deloukas, Anette P. Gjesing, Goo Jun, Peter M. Nilsson, Jacquelyn Murphy, Robert Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, et al.

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

AbstractTo 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.

Original language	American English
Journal	Scientific Data
Volume	4
DOIs	https://doi.org/10.1038/sdata.2017.179
State	Published - 2017
Externally published	Yes

Funding Agency

Kuwait Foundation for the Advancement of Sciences

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/sdata.2017.179

Cite this

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., ... al., E. (2017). data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data, 4. https://doi.org/10.1038/sdata.2017.179

@article{221736d5a6934466bcefc7a134ac16f9,

title = "data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls",

abstract = "AbstractTo 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.",

author = "Jason Flannick and Christian Fuchsberger and Anubha Mahajan and Teslovich, {Tanya M.} and Vineeta Agarwala and Gaulton, {Kyle J.} and Lizz Caulkins and Ryan Koesterer and Clement Ma and Loukas Moutsianas and McCarthy, {Davis J.} and Rivas, {Manuel A.} and Perry, {John R. B.} and Xueling Sim and Blackwell, {Thomas W.} and Robertson, {Neil R.} and Rayner, {N. William} and Pablo Cingolani and Locke, {Adam E.} and Tajes, {Juan Fernandez} and Highland, {Heather M.} and Josee Dupuis and Chines, {Peter S.} and Lindgren, {Cecilia M.} and Christopher Hartl and Jackson, {Anne U.} and Han Chen and Huyghe, {Jeroen R.} and {De Bunt}, {Martijn Van} and Pearson, {Richard D.} and Ashish Kumar and Martina Muller-Nurasyid and Niels Grarup and Stringham, {Heather M.} and Gamazon, {Eric R.} and Jaehoon Lee and Yuhui Chen and Scott, {Robert A.} and Below, {Jennifer E.} and Peng Chen and Jinyan Huang and Go, {Min Jin} and Stitzel, {Michael L.} and Dorota Pasko and Parker, {Stephen C. J.} and Varga, {Tibor V.} and Todd Green and Beer, {Nicola L.} and Day-Williams, {Aaron G.} and Teresa Ferreira and Tasha Fingerlin and Momoko Horikoshi and Cheng Hu and Iksoo Huh and Ikram, {Mohammad Kamran} and Bong-Jo Kim and Yongkang Kim and Kim, {Young Jin} and Min-Seok Kwon and Juyoung Lee and Selyeong Lee and Keng-Han Lin and Maxwell, {Taylor J.} and Yoshihiko Nagai and Xu Wang and Welch, {Ryan P.} and Joon Yoon and Weihua Zhang and Nir Barzilai and Voight, {Benjamin F.} and Bok-Ghee Han and Jenkinson, {Christopher P.} and Teemu Kuulasmaa and Johanna Kuusisto and Alisa Manning and Ng, {Maggie C. Y.} and Palmer, {Nicholette D.} and Beverley Balkau and Alena Stancakova and Abboud, {Hanna E.} and Heiner Boeing and Vilmantas Giedraitis and Dorairaj Prabhakaran and Omri Gottesman and James Scott and Jason Carey and Phoenix Kwan and George Grant and Smith, {Joshua D.} and Neale, {Benjamin M.} and Shaun Purcell and Butterworth, {Adam S.} and Howson, {Joanna M. M.} and Lee, {Heung Man} and Yingchang Lu and Soo-Heon Kwak and Wei Zhao and John Danesh and Lam, {Vincent K. L.} and Park, {Kyong Soo} and Danish Saleheen and So, {Wing Yee} and Tam, {Claudia H. T.} and Uzma Afzal and David Aguilar and Rector Arya and Tin Aung and Edmund Chan and Carmen Navarro and Ching-Yu Cheng and Domenico Palli and Adolfo Correa and Curran, {Joanne E.} and Dennis Rybin and Farook, {Vidya S.} and Fowler, {Sharon P.} and Freedman, {Barry I.} and Michael Griswold and Hale, {Daniel Esten} and Hicks, {Pamela J.} and Chiea-Chuen Khor and Satish Kumar and Benjamin Lehne and Dorothee Thuillier and Lim, {Wei Yen} and Jianjun Liu and Marie Loh and Musani, {Solomon K.} and Sobha Puppala and Scott, {William R.} and Loic Yengo and Sian-Tsung Tan and Taylor, {Herman A.} and Farook Thameem and Gregory Wilson and Wong, {Tien Yin} and Njolstad, {Pal Rasmus} and Levy, {Jonathan C.} and Massimo Mangino and Bonnycastle, {Lori L.} and Thomas Schwarzmayr and Joao Fadista and Surdulescu, {Gabriela L.} and Christian Herder and Groves, {Christopher J.} and Thomas Wieland and Jette Bork-Jensen and Ivan Brandslund and Cramer Christensen and Koistinen, {Heikki A.} and Doney, {Alex S. F.} and Leena Kinnunen and Tonu Esko and Farmer, {Andrew J.} and Liisa Hakaste and Dylan Hodgkiss and Jasmina Kravic and Valeriya Lyssenko and Mette Hollensted and Jorgensen, {Marit E.} and Torben Jorgensen and Claes Ladenvall and Justesen, {Johanne Marie} and Annemari Karajamaki and Jennifer Kriebel and Wolfgang Rathmann and Lars Lannfelt and Torsten Lauritzen and Narisu Narisu and Allan Linneberg and Olle Melander and Lili Milani and Matt Neville and Marju Orho-Melander and Lu Qi and Qibin Qi and Michael Roden and Olov Rolandsson and Amy Swift and Rosengren, {Anders H.} and Kathleen Stirrups and Wood, {Andrew R.} and Evelin Mihailov and Christine Blancher and Carneiro, {Mauricio O.} and Jared Maguire and Ryan Poplin and Khalid Shakir and Timothy Fennell and Mark DePristo and {de Angelis}, {Martin Hrabe} and Panos Deloukas and Gjesing, {Anette P.} and Goo Jun and Nilsson, {Peter M.} and Jacquelyn Murphy and Robert Onofrio and Barbara Thorand and Torben Hansen and Christa Meisinger and et al.",

year = "2017",

doi = "10.1038/sdata.2017.179",

language = "American English",

volume = "4",

journal = "Scientific Data",

issn = "2052-4463",

publisher = "Nature Research",

}

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, De Bunt, MV, Pearson, RD, Kumar, A, Muller-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, B-J, Kim, Y, Kim, YJ, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, TJ, Nagai, Y, Wang, X, Welch, RP, Yoon, J, Zhang, W, Barzilai, N, Voight, BF, Han, B-G, Jenkinson, CP, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, MCY, Palmer, ND, Balkau, B, Stancakova, 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, S-H, 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, C-Y, Palli, D, Correa, A, Curran, JE, Rybin, D, Farook, VS, Fowler, SP, Freedman, BI, Griswold, M, Hale, DE, Hicks, PJ, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, WY, Liu, J, Loh, M, Musani, SK, Puppala, S, Scott, WR, Yengo, L, Tan, S-T, Taylor, HA, Thameem, F, Wilson, G, Wong, TY, Njolstad, 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, Jorgensen, ME, Jorgensen, T, Ladenvall, C, Justesen, JM, 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, 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, PM, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C & al., E 2017, 'data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls', Scientific Data, vol. 4. https://doi.org/10.1038/sdata.2017.179

TY - JOUR

T1 - data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls

AU - Flannick, Jason

AU - Fuchsberger, Christian

AU - Mahajan, Anubha

AU - Teslovich, Tanya M.

AU - Agarwala, Vineeta

AU - Gaulton, Kyle J.

AU - Caulkins, Lizz

AU - Koesterer, Ryan

AU - Ma, Clement

AU - Moutsianas, Loukas

AU - McCarthy, Davis J.

AU - Rivas, Manuel A.

AU - Perry, John R. B.

AU - Sim, Xueling

AU - Blackwell, Thomas W.

AU - Robertson, Neil R.

AU - Rayner, N. William

AU - Cingolani, Pablo

AU - Locke, Adam E.

AU - Tajes, Juan Fernandez

AU - Highland, Heather M.

AU - Dupuis, Josee

AU - Chines, Peter S.

AU - Lindgren, Cecilia M.

AU - Hartl, Christopher

AU - Jackson, Anne U.

AU - Chen, Han

AU - Huyghe, Jeroen R.

AU - De Bunt, Martijn Van

AU - Pearson, Richard D.

AU - Kumar, Ashish

AU - Muller-Nurasyid, Martina

AU - Grarup, Niels

AU - Stringham, Heather M.

AU - Gamazon, Eric R.

AU - Lee, Jaehoon

AU - Chen, Yuhui

AU - Scott, Robert A.

AU - Below, Jennifer E.

AU - Chen, Peng

AU - Huang, Jinyan

AU - Go, Min Jin

AU - Stitzel, Michael L.

AU - Pasko, Dorota

AU - Parker, Stephen C. J.

AU - Varga, Tibor V.

AU - Green, Todd

AU - Beer, Nicola L.

AU - Day-Williams, Aaron G.

AU - Ferreira, Teresa

AU - Fingerlin, Tasha

AU - Horikoshi, Momoko

AU - Hu, Cheng

AU - Huh, Iksoo

AU - Ikram, Mohammad Kamran

AU - Kim, Bong-Jo

AU - Kim, Yongkang

AU - Kim, Young Jin

AU - Kwon, Min-Seok

AU - Lee, Juyoung

AU - Lee, Selyeong

AU - Lin, Keng-Han

AU - Maxwell, Taylor J.

AU - Nagai, Yoshihiko

AU - Wang, Xu

AU - Welch, Ryan P.

AU - Yoon, Joon

AU - Zhang, Weihua

AU - Barzilai, Nir

AU - Voight, Benjamin F.

AU - Han, Bok-Ghee

AU - Jenkinson, Christopher P.

AU - Kuulasmaa, Teemu

AU - Kuusisto, Johanna

AU - Manning, Alisa

AU - Ng, Maggie C. Y.

AU - Palmer, Nicholette D.

AU - Balkau, Beverley

AU - Stancakova, Alena

AU - Abboud, Hanna E.

AU - Boeing, Heiner

AU - Giedraitis, Vilmantas

AU - Prabhakaran, Dorairaj

AU - Gottesman, Omri

AU - Scott, James

AU - Carey, Jason

AU - Kwan, Phoenix

AU - Grant, George

AU - Smith, Joshua D.

AU - Neale, Benjamin M.

AU - Purcell, Shaun

AU - Butterworth, Adam S.

AU - Howson, Joanna M. M.

AU - Lee, Heung Man

AU - Lu, Yingchang

AU - Kwak, Soo-Heon

AU - Zhao, Wei

AU - Danesh, John

AU - Lam, Vincent K. L.

AU - Park, Kyong Soo

AU - Saleheen, Danish

AU - So, Wing Yee

AU - Tam, Claudia H. T.

AU - Afzal, Uzma

AU - Aguilar, David

AU - Arya, Rector

AU - Aung, Tin

AU - Chan, Edmund

AU - Navarro, Carmen

AU - Cheng, Ching-Yu

AU - Palli, Domenico

AU - Correa, Adolfo

AU - Curran, Joanne E.

AU - Rybin, Dennis

AU - Farook, Vidya S.

AU - Fowler, Sharon P.

AU - Freedman, Barry I.

AU - Griswold, Michael

AU - Hale, Daniel Esten

AU - Hicks, Pamela J.

AU - Khor, Chiea-Chuen

AU - Kumar, Satish

AU - Lehne, Benjamin

AU - Thuillier, Dorothee

AU - Lim, Wei Yen

AU - Liu, Jianjun

AU - Loh, Marie

AU - Musani, Solomon K.

AU - Puppala, Sobha

AU - Scott, William R.

AU - Yengo, Loic

AU - Tan, Sian-Tsung

AU - Taylor, Herman A.

AU - Thameem, Farook

AU - Wilson, Gregory

AU - Wong, Tien Yin

AU - Njolstad, Pal Rasmus

AU - Levy, Jonathan C.

AU - Mangino, Massimo

AU - Bonnycastle, Lori L.

AU - Schwarzmayr, Thomas

AU - Fadista, Joao

AU - Surdulescu, Gabriela L.

AU - Herder, Christian

AU - Groves, Christopher J.

AU - Wieland, Thomas

AU - Bork-Jensen, Jette

AU - Brandslund, Ivan

AU - Christensen, Cramer

AU - Koistinen, Heikki A.

AU - Doney, Alex S. F.

AU - Kinnunen, Leena

AU - Esko, Tonu

AU - Farmer, Andrew J.

AU - Hakaste, Liisa

AU - Hodgkiss, Dylan

AU - Kravic, Jasmina

AU - Lyssenko, Valeriya

AU - Hollensted, Mette

AU - Jorgensen, Marit E.

AU - Jorgensen, Torben

AU - Ladenvall, Claes

AU - Justesen, Johanne Marie

AU - Karajamaki, Annemari

AU - Kriebel, Jennifer

AU - Rathmann, Wolfgang

AU - Lannfelt, Lars

AU - Lauritzen, Torsten

AU - Narisu, Narisu

AU - Linneberg, Allan

AU - Melander, Olle

AU - Milani, Lili

AU - Neville, Matt

AU - Orho-Melander, Marju

AU - Qi, Lu

AU - Qi, Qibin

AU - Roden, Michael

AU - Rolandsson, Olov

AU - Swift, Amy

AU - Rosengren, Anders H.

AU - Stirrups, Kathleen

AU - Wood, Andrew R.

AU - Mihailov, Evelin

AU - Blancher, Christine

AU - Carneiro, Mauricio O.

AU - Maguire, Jared

AU - Poplin, Ryan

AU - Shakir, Khalid

AU - Fennell, Timothy

AU - DePristo, Mark

AU - de Angelis, Martin Hrabe

AU - Deloukas, Panos

AU - Gjesing, Anette P.

AU - Jun, Goo

AU - Nilsson, Peter M.

AU - Murphy, Jacquelyn

AU - Onofrio, Robert

AU - Thorand, Barbara

AU - Hansen, Torben

AU - Meisinger, Christa

AU - al., et

PY - 2017

Y1 - 2017

N2 - AbstractTo 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.

AB - AbstractTo 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.

U2 - 10.1038/sdata.2017.179

DO - 10.1038/sdata.2017.179

M3 - Article

SN - 2052-4463

VL - 4

JO - Scientific Data

JF - Scientific Data

ER -

data descriptor: sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Abstract

Funding Agency

UN SDGs

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