Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Autor: Goodrich, Julia K., Singer-Berk, Moriel, Son, Rachel, Sveden, Abigail, Wood, Jordan, England, Eleina, Cole, Joanne B., Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A., Dahl, Andy, Aguilar-Salinas, Carlos A., Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin, Bowden, Donald W., Centeno-Cruz, Federico, Chambers, John C., Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, DeFronzo, Ralph A., Duggirala, Ravindranath, Dupuis, Josée, Garay-Sevilla, Ma Eugenia, García-Ortiz, Humberto, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Gonzalez, Ma Elena, Grarup, Niels, Groop, L, Gross, Myron, Haiman, Christopher A., Han, Sohee, Hanis, Craig L., Hansen, Torben, Heard-Costa, Nancy L., Henderson, Brian E., Hernandez, Juan Manuel Malacara, Hwang, Mi Yeong, Islas-Andrade, Sergio, Jørgensen, Marit E., Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A., Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lange, Leslie, Lee, Jong-Young, Lee, Juyoung, Lehman, Donna M., Linneberg, Allan, Liu, Jianjun, Loos, Ruth J. F., Lyssenko, Valeriya, Ma, Ronald C. W., Martínez-Hernández, Angélica, Meigs, James B., Meitinger, Thomas, Mendoza-Caamal, Elvia, Mohlke, Karen L., Morris, AD, Morrison, Alanna C., Ng, Maggie C. Y., Nilsson, Peter M., O’Donnell, Christopher J., Orozco, Lorena, Palmer, Colin N. A., Park, Kyong Soo, Post, W, Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M., Reiner, Alexander P., Revilla-Monsalve, Cristina, Rich, Stephen S., Rotter, Jerome I., Saleheen, Danish, Schurmann, Claudia, Sim, Xueling, Sladek, Rob, Small, Kerrin S., So, Wing Yee, Spector, Timothy D., Strauch, Konstantin, Strom, Tim M., Tai, E. Shyong, Tam, Claudia H. T., Teo, Yik Ying, Thameem, Farook, Tomlinson, Brian, Tracy, Russell P., Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Teresa, van Dam, Rob M., Vasan, Ramachandran S., Wilson, James G., Witte, Daniel R., Wong, Tien-Yin, Burtt, Noël P., Zaitlen, Noah, McCarthy, Mark I., Boehnke, Michael, Pollin, Toni I., Flannick, Jason, Mercader, Josep M., O’Donnell-Luria, Anne, Baxter, Samantha, Florez, Jose C., MacArthur, Daniel G., Udler, MS

Externí odkaz: https://hdl.handle.net/11250/2991433

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

Autor: 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, Josée, 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, Müller-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, Stančáková, 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, Dorothée, Lim, Wei Yen, Liu, Jianjun, Loh, Marie, Musani, Solomon K., Puppala, Sobha, Scott, William R., Yengo, Loïc, Tan, Sian Tsung, Taylor, Herman A., Thameem, Farook, Wilson, Gregory, Wong, Tien Yin, Njølstad, Pål Rasmus, Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Schwarzmayr, Thomas, Fadista, João, 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, Tõnu, Farmer, Andrew J., Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeriya, Hollensted, Mette, Jørgensen, Marit E., Jørgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Käräjämäki, 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 Hrabé, 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., Syvänen, 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, Inês, 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, Mägi, 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, Noël P., Florez, Jose C., Boehnke, Michael, McCarthy, Mark I.

Publikováno v: 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, Van De Bunt, M, Pearson, R D, Kumar, A, Müller-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, Stančáková, 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, Njølstad, 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, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, 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, 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, Syvänen, A C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, 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, Mägi, 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, E, 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, pp. 1-20 . https://doi.org/10.1038/sdata.2017.179

Correction: SCIENTIFIC DATA Vol. 5, Article Number: 180182, DOI: 10.1038/sdata.2018.2 Published: JAN 23 2018 To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7deabed93a5e3500e0eb109afe5cbede
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-339776

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

Autor: Mahajan, Anubha, Sim, Xueling, Ng, Hui Jin, Manning, Alisa, Rivas, Manuel A., Highland, Heather M., Locke, Adam E., Grarup, Niels, Im, Hae Kyung, Cingolani, Pablo, Flannick, Jason, Fontanillas, Pierre, Fuchsberger, Christian, Gaulton, Kyle J., Teslovich, Tanya M., Rayner, N. William, Robertson, Neil R., Beer, Nicola L., Rundle, Jana K., Bork-Jensen, Jette, Ladenvall, Claes, Blancher, Christine, Buck, David, Buck, Gemma, Burtt, Noël P., Gabriel, Stacey, Gjesing, Anette P., Groves, Christopher J., Hollensted, Mette, Huyghe, Jeroen R., Jackson, Anne U., Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S., Stringham, Heather M., Syvänen, Ann Christine, Trakalo, Joseph, Abecasis, Goncalo, Bell, Graeme I., Blangero, John, Cox, Nancy J., Duggirala, Ravindranath, Hanis, Craig L., Seielstad, Mark, Wilson, James G., Christensen, Cramer, Brandslund, Ivan, Rauramaa, Rainer, Surdulescu, Gabriela L., Doney, Alex S F, Lannfelt, Lars, Linneberg, Allan, Isomaa, Bo, Tuomi, Tiinamaija, Jørgensen, Marit E., Jørgensen, Torben, Kuusisto, Johanna, Uusitupa, Matti, Salomaa, Veikko, Spector, Timothy D., Morris, Andrew D., Palmer, Colin N A, Collins, Francis S., Mohlke, Karen L., Bergman, Richard N., Ingelsson, Erik, Lind, Lars, Tuomilehto, Jaakko, Hansen, Torben, Watanabe, Richard M., Prokopenko, Inga, Dupuis, Josee, Karpe, Fredrik, Groop, Leif, Laakso, Markku, Pedersen, Oluf, Florez, Jose C., Morris, Andrew P., Altshuler, David, Meigs, James B., Boehnke, Michael, McCarthy, Mark I., Lindgren, Cecilia M., Gloyn, Anna L., Abboud, Hanna E., Afzal, Uzma, Aguilar, David, Arya, Rector, Atzmon, Gil, Aung, Tin, Banks, Eric, Barroso, Inês, Barzilai, Nir, Below, Jennifer E., Bharadwaj, Dwaipayan, Blackwell, Thomas W., Bonnycastle, Lori L., Bowden, Don, Carey, Jason, Carneiro, Mauricio O., Chambers, John C., Chan, Edmund, Chan, Juliana, Chandak, Giriraj R., Chen, Peng, Chen, Yuhui, Chen, Han, Cheng, Ching Yu, Chia, Kee Seng, Cho, Yoon Shin, Correa, Adolfo, Curran, Joanne E., Daly, Mark J., Day-Williams, Aaron G., DeFronzo, Ralph A., DePristo, Mark, Donnelly, Peter J., Ebrahim, Shah B., Elliott, Paul, Esko, Tõnu, Fadista, João, Farjoun, Yossi, Farmer, Andrew J., Farook, Vidya S., Fennell, Timothy, Ferreira, Teresa, Fingerlin, Tasha, Forsén, Tom, Fowler, Sharon P., Franks, Paul W., Frayling, Timothy M., Freedman, Barry I., Froguel, Philippe, Gamazon, Eric R., Gieger, Christian, Glaser, Benjamin, Go, Min Jin, Goldstein, Jacqueline I., Grallert, Harald, Grant, George, Green, Todd, Griswold, Michael, Hale, Daniel Esten, Han, Bok Ghee, Hartl, Christopher, Hattersley, Andrew T., Hicks, Pamela J., Hodgkiss, Dylan, Horikoshi, Momoko, Hrabé de Angelis, Martin, Hu, Cheng, Hu, Frank B., Huh, Iksoo, Kamran Ikram, Mohammad, Illig, Thomas, Jablonski, Kathleen A., Jenkinson, Christopher P., Jia, Weiping, Kang, Hyun Min, Khor, Chiea Chuen, Kim, Yongkang, Kim, Young Jin, Kim, Bong Jo, Kinnunen, Leena, Kooner, Jaspal Singh, Kravic, Jasmina, Kriebel, Jennifer, Kumar, Ashish, Kumar, Satish, Kuulasmaa, Teemu, Kwon, Min Seok, Langenberg, Claudia, Lauritzen, Torsten, Lee, Selyeong, Lee, Jaehoon, Lee, Juyoung, Lee, Jong Young, Lehman, Donna M., Lehne, Benjamin, Levy, Jonathan C., Li, Jiang, Liang, Liming, Lim, Wei Yen, Lin, Keng Han, Liu, Jianjun, Loh, Marie, Ma, Ronald C W, Ma, Clement, Mägi, Reedik, Maguire, Jared, Maxwell, Taylor J., McVean, Gilean, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mihailov, Evelin, Milani, Lili, Moutsianas, Loukas, Müller-Nurasyid, Martina, K. Musani, Solomon, Nagai, Yoshihiko, Narisu, Narisu, Neale, Benjamin M., Ng, Maggie C Y, Nilsson, Peter, O'Rahilly, Stephen P., Orho-Melander, Marju, Owen, Katharine R., Palmer, Nicholette D., Park, Taesung, Pasko, Dorota, Pearson, Richard D., Perry, John R B, Peters, Annette, Pollin, Toni I., Poplin, Ryan, Prabhakaran, Dorairaj, Puppala, Sobha, Purcell, Shaun, Qi, Lu, Qi, Qibin, Roden, Michael, Rolandsson, Olov, Rosengren, Anders H., Sandhu, Manjinder, Schwarzmayr, Thomas, Scott, Laura J., Scott, Robert A., Scott, James, Scott, William R., Sehmi, Jobanpreet, Shakir, Khalid, Sladek, Rob, Smith, Joshua D., Stancáková, Alena, Strauch, Konstantin, Strom, Tim M., Swift, Amy, Tai, E. Shyong, Tajes, Juan Fernandez, Tan, Sian Tsung, Tandon, Nikhil, Taylor, Herman A., Teo, Yik Ying, Thameem, Farook, Thorand, Barbara, van de Bunt, Martijn, Varga, Tibor V., Walker, Mark, Wareham, Nicholas J., Welch, Ryan P., Wieland, Thomas, Wilson, Gregory, Wong, Tien Yin, Wood, Andrew R., Yoon, Joon, Zeggini, Eleftheria, Zhang, Weihua

Publikováno v: Mahajan, A, Sim, X, Ng, H J, Manning, A, Rivas, M A, Highland, H M, Locke, A E, Grarup, N, Im, H K, Cingolani, P, Flannick, J, Fontanillas, P, Fuchsberger, C, Gaulton, K J, Teslovich, T M, Rayner, N W, Robertson, N R, Beer, N L, Rundle, J K, Bork-Jensen, J, Ladenvall, C, Blancher, C, Buck, D, Buck, G, Burtt, N P, Gabriel, S, Gjesing, A P, Groves, C J, Hollensted, M, Huyghe, J R, Jackson, A U, Jun, G, Justesen, J M, Mangino, M, Murphy, J, Neville, M, Onofrio, R, Small, K S, Stringham, H M, Syvänen, A C, Trakalo, J, Abecasis, G, Bell, G I, Blangero, J, Cox, N J, Duggirala, R, Hanis, C L, Seielstad, M, Wilson, J G, Christensen, C, Brandslund, I, Rauramaa, R, Surdulescu, G L, Doney, A S F, Lannfelt, L, Linneberg, A, Isomaa, B, Tuomi, T, Jørgensen, M E, Jørgensen, T, Kuusisto, J, Uusitupa, M, Salomaa, V, Spector, T D, Morris, A D, Palmer, C N A, Collins, F S, Mohlke, K L, Bergman, R N, Ingelsson, E, Lind, L, Tuomilehto, J, Hansen, T, Watanabe, R M, Prokopenko, I, Dupuis, J, Karpe, F, Groop, L, Laakso, M, Pedersen, O, Florez, J C, Morris, A P, Altshuler, D, Meigs, J B, Boehnke, M, McCarthy, M I, Lindgren, C M, Gloyn, A L, Abboud, H E, Afzal, U, Aguilar, D, Arya, R, Atzmon, G, Aung, T, Banks, E, Barroso, I, Barzilai, N, Below, J E, Bharadwaj, D, Blackwell, T W, Bonnycastle, L L, Bowden, D, Carey, J, Carneiro, M O, Chambers, J C, Chan, E, Chan, J, Chandak, G R, Chen, P, Chen, Y, Chen, H, Cheng, C Y, Chia, K S, Cho, Y S, Correa, A, Curran, J E, Daly, M J, Day-Williams, A G, DeFronzo, R A, DePristo, M, Donnelly, P J, Ebrahim, S B, Elliott, P, Esko, T, Fadista, J, Farjoun, Y, Farmer, A J, Farook, V S, Fennell, T, Ferreira, T, Fingerlin, T, Forsén, T, Fowler, S P, Franks, P W, Frayling, T M, Freedman, B I, Froguel, P, Gamazon, E R, Gieger, C, Glaser, B, Go, M J, Goldstein, J I, Grallert, H, Grant, G, Green, T, Griswold, M, Hale, D E, Han, B G, Hartl, C, Hattersley, A T, Hicks, P J, Hodgkiss, D, Horikoshi, M, Hrabé de Angelis, M, Hu, C, Hu, F B, Huh, I, Kamran Ikram, M, Illig, T, Jablonski, K A, Jenkinson, C P, Jia, W, Kang, H M, Khor, C C, Kim, Y, Kim, Y J, Kim, B J, Kinnunen, L, Kooner, J S, Kravic, J, Kriebel, J, Kumar, A, Kumar, S, Kuulasmaa, T, Kwon, M S, Langenberg, C, Lauritzen, T, Lee, S, Lee, J, Lee, J, Lee, J Y, Lehman, D M, Lehne, B, Levy, J C, Li, J, Liang, L, Lim, W Y, Lin, K H, Liu, J, Loh, M, Ma, R C W, Ma, C, Mägi, R, Maguire, J, Maxwell, T J, McVean, G, Meisinger, C, Meitinger, T, Melander, O, Metspalu, A, Mihailov, E, Milani, L, Moutsianas, L, Müller-Nurasyid, M, K. Musani, S, Nagai, Y, Narisu, N, Neale, B M, Ng, M C Y, Nilsson, P, O'Rahilly, S P, Orho-Melander, M, Owen, K R, Palmer, N D, Park, T, Pasko, D, Pearson, R D, Perry, J R B, Peters, A, Pollin, T I, Poplin, R, Prabhakaran, D, Puppala, S, Purcell, S, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Rosengren, A H, Sandhu, M, Schwarzmayr, T, Scott, L J, Scott, R A, Scott, J, Scott, W R, Sehmi, J, Shakir, K, Sladek, R, Smith, J D, Stancáková, A, Strauch, K, Strom, T M, Swift, A, Tai, E S, Tajes, J F, Tan, S T, Tandon, N, Taylor, H A, Teo, Y Y, Thameem, F, Thorand, B, van de Bunt, M, Varga, T V, Walker, M, Wareham, N J, Welch, R P, Wieland, T, Wilson, G, Wong, T Y, Wood, A R, Yoon, J, Zeggini, E & Zhang, W 2015, ' Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus ', PL o S Genetics, vol. 11, no. 1, e1004876 . https://doi.org/10.1371/journal.pgen.1004876

Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contrib

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

Autor: 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 RB, 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, Müller-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 CJ, 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 CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, 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 MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, Lam, Vincent KL, Park, Kyong Soo, Saleheen, Danish, So, Wing Yee, Tam, Claudia HT, 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, Dorothée, Lim, Wei Yen, Liu, Jianjun, Loh, Marie, Musani, Solomon K, Puppala, Sobha, Scott, William R, Yengo, Loïc, Tan, Sian-Tsung, Taylor, Herman A, Thameem, Farook, Wilson, Gregory, Wong, Tien Yin, Njølstad, Pål Rasmus, Levy, Jonathan C, Mangino, Massimo, Bonnycastle, Lori L, Schwarzmayr, Thomas, Fadista, João, Surdulescu, Gabriela L, Herder, Christian, Groves, Christopher J, Wieland, Thomas, Bork-Jensen, Jette, Brandslund, Ivan, Christensen, Cramer, Koistinen, Heikki A, Doney, Alex SF, Kinnunen, Leena, Esko, Tõnu, Farmer, Andrew J, Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeri, Hollensted, Mette, Jørgensen, Marit E, Jørgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Käräjämäki, 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 Hrabé, 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 NA, Pedersen, Oluf, Rauramaa, Rainer, Tuomilehto, Jaakko, Salomaa, Veikko, Watanabe, Richard M, Syvänen, 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, Inês, Teo, Yik Ying, Zeggini, Eleftheria, Loos, Ruth JF, 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, Mägi, 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, Mohlke, Karen L, Meitinger, Thomas, Groop, Leif, Abecasis, Goncalo, Scott, Laura J, Morris, Andrew P, Kang, Hyun Min, Altshuler, David, Burtt, Noël P, Florez, Jose C, Boehnke, Michael, McCarthy, Mark I

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 anc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dba6b373a1128bf7dde31250bf45a082