Zobrazeno 1 - 10 of 257 pro vyhledávání: '"Polymorphism, Single Nucleotide / genetics"'
1
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Autor: Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E, Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L, Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W, Locke, Adam E, Marouli, Eirini, Zajac, Greg J M, Wu, Kuan-Han H, Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T, Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F, Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M, Rasheed, Humaira, Havulinna, Aki S, Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A, Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J, Narita, Akira, Takayama, Jun, Martin, Hilary C, Hunt, Karen A, Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E, Campbell, Archie, Lin, Kuang, Millwood, Iona Y, Rasheed, Asif, Hindy, George, Faul, Jessica D, Zhao, Wei, Weir, David R, Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R, Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M, Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian'an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R, Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E, Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A, Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R, Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L, Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F, Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T, Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E, Bradfield, Jonathan P, Ruotsalainen, Sanni E, Daw, E Warwick, Zmuda, Joseph M, Mitchell, Jonathan S, Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A, Le, Phuong, Feitosa, Mary F, Wojczynski, Mary K, Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W, Engmann, Jorgen, Noah, Tsao L, Verma, Anurag, Slieker, Roderick C, Lo, Ken Sin, Zilhao, Nuno R, Kleber, Marcus E, Delgado, Graciela E, Huo, Shaofeng, Ikeda, Daisuke D, Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L, Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J, Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S, Sankareswaran, Alagu, Irvin, Marguerite R, Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R H J, Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A, Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N, Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C, Wang, Ya Xing, Wei, Wen B, Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A, Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F, Smith, Jennifer A, Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J, Pitkänen, Niina, Cade, Brian E, van der Laan, Sander W, Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R, Doumatey, Ayo P, Adeyemo, Adebowale A, Lee, Jong Young, Petersen, Eva R B, Nielsen, Aneta A, Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W, Wang, Carol A, Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O, van Setten, Jessica, He, Karen Y, Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D, Reiner, Alexander P, Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C, Launer, Lenore J, Li, Huaixing, Nalls, Mike A, Raitakari, Olli T, Ichihara, Sahoko, Wild, Sarah H, Nelson, Christopher P, Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S, Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J, Kim, Eung Kweon, Adams, Hieab H H, Ikram, M Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W, Kraaijeveld, Adriaan O, Beulens, Joline W J, Shu, Xiao-Ou, Rallidis, Loukianos S, Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W, Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E, Mori, Trevor A, Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M, Stark, Klaus J, Zimmermann, Martina E, Völzke, Henry, Homuth, Georg, Evans, Michele K, Zonderman, Alan B, Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E, Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J, Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A, Kato, Norihiro, Schulze, Matthias B, Girotto, Giorgia, Böger, Carsten A, Jung, Bettina, Joshi, Peter K, Bennett, David A, De Jager, Philip L, Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J, Munroe, Patricia B, Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B, Samani, Nilesh J, Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A, Adair, Linda S, Bechayda, Sonny Augustin, de Silva, H Janaka, Wickremasinghe, Ananda R, Krauss, Ronald M, Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I, Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G, Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E, Golightly, Yvonne M, Wilson, James F, Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J, Rao, D C, Arnett, Donna K, Walker, Mark, Scott, Laura J, Koistinen, Heikki A, Chandak, Giriraj R, Mercader, Josep M, Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E Shyong, van Dam, Rob M, Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F, McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I, Palmer, Colin N A, Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M, Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, T Hart, Leen M, Elders, Petra J M, Rader, Daniel J, Damrauer, Scott M, Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D, Loos, Ruth J F, Province, Michael A, Parra, Esteban J, Cruz, Miguel, Psaty, Bruce M, Brandslund, Ivan, Pramstaller, Peter P, Rotimi, Charles N, Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F A, Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W, Linneberg, Allan, Jukema, J Wouter, Khera, Amit V, Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O, Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P, Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I, Dantoft, Thomas M, Karpe, Fredrik, Neville, Matt J, Timpson, Nicholas J, Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T, Pedersen, Nancy L, Magnusson, Patrik K E, Boomsma, Dorret I, de Geus, Eco J C, Cupples, L Adrienne, van Meurs, Joyce B J, Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J, Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C, Kooner, Jaspal S, de Vries, Paul S, Morrison, Alanna C, Hazelhurst, Scott, Ramsay, Michèle, North, Kari E, Daviglus, Martha, Kraft, Peter, Martin, Nicholas G, Whitfield, John B, Abbas, Shahid, Saleheen, Danish, Walters, Robin G, Holmes, Michael V, Black, Corri, Smith, Blair H, Baras, Aris, Justice, Anne E, Buring, Julie E, Ridker, Paul M, Chasman, Daniel I, Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A, Trembath, Richard C, Wei, Wei-Qi, Jarvik, Gail P, Namjou, Bahram, Hayes, M Geoffrey, Ritchie, Marylyn D, Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y Eugene, Ho, Yuk-Lam, Lynch, Julie A, Tsao, Philip S, Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J, Gaziano, John M, Wilson, Peter, Mohlke, Karen L, Frayling, Timothy M, Hirschhorn, Joel N, Kathiresan, Sekar, Boehnke, Michael, Million Veterans Program, Global Lipids Genetics Consortium, Struan Grant, Natarajan, Pradeep, Sun, Yan V, Morris, Andrew P, Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L, Willer, Cristen J, Zhu, Xiang, Brown, Christopher D
Publikováno v: American Journal of Human Genetics, 109(8), 1366-1387. CELL PRESS
Million Veterans Program, Ramdas, S, Judd, J, Graham, S E, Kanoni, S, Wang, Y, Surakka, I, Wenz, B, Clarke, S L, Chesi, A, Wells, A, Bhatti, K F, Vedantam, S, Winkler, T W, Locke, A E, Marouli, E, Zajac, G J M, Wu, K-H H, Ntalla, I, Hui, Q, Klarin, D, Hilliard, A T, Wang, Z, Xue, C, Thorleifsson, G, Helgadottir, A, Gudbjartsson, D F, Holm, H, Olafsson, I, Hwang, M Y, Han, S, Akiyama, M, Sakaue, S, Terao, C, Kanai, M, Zhou, W, Brumpton, B M, Rasheed, H, Havulinna, A S, Veturi, Y, Pacheco, J A, Weir, D R, Brown, M R, Smyth, L J, Cañadas-Garre, M, Li, X, Nelson, C P, McKnight, A J, Kee, F, Wilson, P & Brown, C D 2022, ' A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids ', The American Journal of Human Genetics, vol. 109, no. 8, pp. 1366-1387 . https://doi.org/10.1016/j.ajhg.2022.06.012
Ramdas, S, Judd, J, Graham, S E, Hottenga, J J, Penninx, B, Boomsma, D I, de Geus, E J C, Million Veterans Program & Global Lipids Genetics Consortium 2022, ' A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids ', American Journal of Human Genetics, vol. 109, no. 8, pp. 1366-1387 . https://doi.org/10.1016/j.ajhg.2022.06.012
Million Veterans Program & Global Lipids Genetics Consortium 2022, ' A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids ', American journal of human genetics, vol. 109, no. 8, pp. 1366-1387 . https://doi.org/10.1016/j.ajhg.2022.06.012
Am J Hum Genet
American journal of human genetics, vol 109, iss 8
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
American Journal of Human Genetics
American journal of human genetics, 109(8), 1366-1387. Cell Press
American journal of human genetics, vol. 109, no. 8, pp. 1366-1387
Ramdas, S, Judd, J, Graham, S E, Kanoni, S, Wang, Y, Surakka, I, Wenz, B, Clarke, S L, Brumpton, B M, Rasheed, H, Haworth, S J, Mitchell, R E, Zhu, X & Brown, C D & et, A 2022, ' A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids ', American Journal of Human Genetics, vol. 109, no. 8, pp. 1366-1387 . https://doi.org/10.1016/j.ajhg.2022.06.012
2022, ' A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids ', American Journal of Human Genetics, vol. 109, no. 8, pp. 1366-1387 . https://doi.org/10.1016/j.ajhg.2022.06.012
American Journal of Human Genetics, 109, 8, pp. 1366-1387
American Journal of Human Genetics, 109, 1366-1387
American Journal of Human Genetics, 109(8), 1366-1387. Cell Press
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce85872de65cda3bd9b22e7d06fabeed
https://doi.org/10.1016/j.ajhg.2022.06.012
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2
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the 'omnigenic' sparse effector hypothesis of complex trait genetics
Autor: Andrii Iakovliev, Stuart J. McGurnaghan, Caroline Hayward, Marco Colombo, Debby Lipschutz, Athina Spiliopoulou, Helen M. Colhoun, Paul M. McKeigue
Publikováno v: Iakovliev, A, McGurnaghan, S J, Hayward, C, Colombo, M, Lipschutz, D, Spiliopoulou, A, Colhoun, H M & McKeigue, P M 2023, ' Genome-wide aggregated trans-effects on risk of type 1 diabetes : A test of the "omnigenic" sparse effector hypothesis of complex trait genetics ', American Journal of Human Genetics, vol. 110, no. 6, pp. 913-926 . https://doi.org/10.1016/j.ajhg.2023.04.003
The "omnigenic" hypothesis postulates that the polygenic effects of common SNPs on a typical complex trait are mediated through trans-effects on expression of a relatively sparse set of effector ("core") genes. We tested this hypothesis in a study of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::568808991625cd24212a2ea1bd78ae60
https://doi.org/10.1016/j.ajhg.2023.04.003
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3
Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis
Autor: Grotzinger, Andrew D., Mallard, Travis T., Akingbuwa, Wonuola A., Ip, Hill F., Adams, Mark J., Lewis, Cathryn M., Mcintosh, Andrew M., Grove, Jakob, Dalsgaard, Søren, Lesch, Klaus-peter, Strom, Nora, Meier, Sandra M., Mattheisen, Manuel, Børglum, Anders D., Mors, Ole, Breen, Gerome, Lee, Phil H., Kendler, Kenneth S., Smoller, Jordan W., Tucker-drob, Elliot M., Nivard, Michel G.
Publikováno v: iPSYCH 2022, ' Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis ', Nature Genetics, vol. 54, pp. 548–559 . https://doi.org/10.1038/s41588-022-01057-4
Nature Genetics, 54(5), 548-559. Nature Publishing Group
Grotzinger, A D, Mallard, T T, Akingbuwa, W A, Ip, H F, Nivard, M G, iPSYCH, Tourette Syndrome and Obsessive Compulsive Disorder Working Group of the Psychiatric Genetics Consortium, Bipolar Disorder Working Group of the Psychiatric Genetics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genetics Consortium & Schizophrenia Working Group of the Psychiatric Genetics Consortium 2022, ' Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis ', Nature genetics, vol. 54, no. 5, pp. 548-559 . https://doi.org/10.1038/s41588-022-01057-4
Grotzinger, A D, Mallard, T T, Akingbuwa, W A, Ip, H F, Adams, M J, Lewis, C M, McIntosh, A M, Grove, J, Dalsgaard, S, Lesch, K P, Strom, N, Meier, S M, Mattheisen, M, Børglum, A D, Mors, O, Breen, G, iPSYCH, Tourette Syndrome and Obsessive Compulsive Disorder Working Group of the Psychiatric Genetics Consortium, Bipolar Disorder Working Group of the Psychiatric Genetics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genetics Consortium, Schizophrenia Working Group of the Psychiatric Genetics Consortium, Lee, P H, Kendler, K S, Smoller, J W, Tucker-Drob, E M & Nivard, M G 2022, ' Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis ', Nature Genetics, vol. 54, no. 5, pp. 548-559 . https://doi.org/10.1038/s41588-022-01057-4
Nature genetics, 54(5), 548-559. Nature Publishing Group
Grotzinger, A D, Mallard, T T, Akingbuwa, W A, Ip, H F, Adams, M J, Lewis, C M, Mcintosh, A M, Grove, J, Dalsgaard, S, Lesch, K, Strom, N, Meier, S M, Mattheisen, M, Børglum, A D, Mors, O, Breen, G, Mattheisen, M, Mors, O, Meier, S M, Lee, P H, Kendler, K S, Smoller, J W, Tucker-drob, E M & Nivard, M G 2022, ' Genetic Architecture of 11 Major Psychiatric Disorders at Biobehavioral, Functional Genomic, and Molecular Genetic Levels of Analysis ', Nature Genetics, vol. 54, no. 5, pp. 548-559 . https://doi.org/10.1038/s41588-022-01057-4
We interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. We identify four broad factors (neurodevelopmental, compulsive, psychotic and internalizing
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33741d1e9a70903ef7260a1628d97d13
https://doi.org/10.1038/s41588-022-01057-4
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4
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Autor: Trubetskoy, Vassily, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Braun, Alice, Kraft, Julia, Skarabis, Nora, Walter, Henrik, Ripke, Stephan, Pardiñas, Antonio F., Dennison, Charlotte A., Hall, Lynsey S., Harwood, Janet C., Richards, Alexander L., Legge, Sophie E., Lynham, Amy, Williams, Nigel M., Bray, Nicholas J., Escott-Price, Valentina, Kirov, George, Holmans, Peter A., Pocklington, Andrew J., Owen, Michael J., Walters, James T. R., O’Donovan, Michael C., Qi, Ting, Sidorenko, Julia, Wu, Yang, Zeng, Jian, Gratten, Jacob, Visscher, Peter M., Yang, Jian, Wray, Naomi R., Bigdeli, Tim B., Fanous, Ayman H., Bryois, Julien, Bergen, Sarah E., Kähler, Anna K., Magnusson, Patrik K. E., Hultman, Christina M., Sullivan, Patrick F., Chen, Chia-Yen, Atkinson, Elizabeth G., Goldstein, Jacqueline I., Howrigan, Daniel P., Martin, Alicia R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Ge, Tian, Lam, Max, Belliveau, Richard A., Chambert, Kimberley D., Genovese, Giulio, Lee, Phil H., Pietiläinen, Olli, McCarroll, Steven A., Moran, Jennifer L., Smoller, Jordan W., Brown, Tyler C., Feng, Guoping, Hyman, Steven E., Sheng, Morgan, Chong, Siow Ann, Subramaniam, Mythily, Lencz, Todd, Malhotra, Anil K., Watanabe, Kyoko, Frei, Oleksandr, Agartz, Ingrid, Athanasiu, Lavinia, Melle, Ingrid, Andreassen, Ole A., Steen, Nils Eiel, DeLisi, Lynn E., Mesholam-Gately, Raquelle I., Seidman, Larry J., Koopmans, Frank, Magnusson, Sigurdur, Stefánsson, Hreinn, Stefansson, Kari, Grove, Jakob, Agerbo, Esben, Als, Thomas D., Bybjerg-Grauholm, Jonas, Demontis, Ditte, Hougaard, David M., Mors, Ole, Mortensen, Preben B., Nordentoft, Merete, Børglum, Anders D., Mattheisen, Manuel, Kim, Minsoo, Gandal, Michael J., Li, Zhiqiang, Shi, Yongyong, Zhou, Wei, Qin, Shengying, Voloudakis, Georgios, Zhang, Wen, Roussos, Panos, Adams, Mark, McIntosh, Andrew, Söderman, Erik, Jönsson, Erik G., McGrath, John J., Al Eissa, Mariam, Bass, Nicholas J., Fiorentino, Alessia, O’Brien, Niamh Louise, Pimm, Jonathan, Sharp, Sally Isabel, McQuillin, Andrew, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Bruggeman, Richard, Alptekin, Köksal, Amin, Farooq, Arolt, Volker, Lencer, Rebecca, Rothermundt, Matthias, Baune, Bernhard T., Arrojo, Manuel, Azevedo, Maria Helena, Bacanu, Silviu A., Webb, Bradley T., Wormley, Brandon K., Riley, Brien P., Kendler, Kenneth S., Begemann, Martin, Mitjans, Marina, Steixner-Kumar, Agnes A., Ehrenreich, Hannelore, Bene, Judit, Benyamin, Beben, Blasi, Giuseppe, Rampino, Antonio, Torretta, Silvia, Bertolino, Alessandro, Bobes, Julio, Bonassi, Stefano, Bressan, Rodrigo Affonseca, Gadelha, Ary, Noto, Cristiano, Ota, Vanessa Kiyomi, Santoro, Marcos Leite, Belangero, Sintia Iole, Bromet, Evelyn J., Buckley, Peter F., Buckner, Randy L., Cahn, Wiepke, Kahn, René S., Cairns, Murray J., Scott, Rodney J., Tooney, Paul A., Schall, Ulrich, Calkins, Monica E., Gur, Raquel E., Gur, Ruben C., Turetsky, Bruce I., Carr, Vaughan J., Castle, David, Harvey, Carol, Catts, Stanley V., Chan, Raymond C. K., Chaumette, Boris, Kebir, Oussama, Krebs, Marie-Odile, Cheng, Wei, Cheung, Eric F. C., Cohen, David, Consoli, Angèle, Giannitelli, Marianna, Laurent-Levinson, Claudine, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Quattrone, Diego, Breen, Gerome, Collier, David A., Di Forti, Marta, Vassos, Evangelos, Mondelli, Valeria, van Amelsvoort, Therese, Murray, Robin M., Davidson, Michael, Davis, Kenneth L., Haroutunian, Vahram, Malaspina, Dolores, Reichenberg, Abraham, Siever, Larry J., Silverman, Jeremy M., Buxbaum, Joseph D., de Haan, Lieuwe, Degenhardt, Franziska, Forstner, Andreas, Nöthen, Markus M., Dickerson, Faith, Dikeos, Dimitris, Papadimitriou, George N., Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Gejman, Pablo V., Sanders, Alan R., Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Peñas, Javier González, González-Pinto, Ana, Molto, María Dolores, Moreno, Carmen, Parellada, Mara, Sanjuan, Julio, Crepo-Facorro, Benedicto, Mata, Ignacio, Arango, Celso, Faraone, Stephen V., Frank, Josef, Streit, Fabian, Witt, Stephanie H., Rietschel, Marcella, Freimer, Nelson B., Ophoff, Roel A., Fromer, Menachem, Stahl, Eli A., Frustaci, Alessandra, Gershon, Elliot S., Giegling, Ina, Hartmann, Annette M., Konte, Bettina, Rujescu, Dan, Giusti-Rodríguez, Paola, Szatkiewicz, Jin P., Godard, Stephanie, González Peñas, Javier, Gopal, Srihari, Savitz, Adam, Li, Qingqin S., Green, Michael F., Nuechterlein, Keith H., Sugar, Catherine A., Greenwood, Tiffany A., Light, Gregory A., Swerdlow, Neal R., Braff, David, Guillin, Olivier, Campion, Dominique, Gülöksüz, Sinan, Luykx, Jurjen J., Rutten, Bart P. 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Publikováno v: Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium & Schizophrenia Working Group of the Psychiatric Genomics Consortium 2022, ' Mapping genomic loci implicates genes and synaptic biology in schizophrenia ', Nature, vol. 604, no. 7906, pp. 502-508 . https://doi.org/10.1038/s41586-022-04434-5
Nature, 604(7906), 502-508. Nature Publishing Group
Nature
Nature, 604, 502-508. Nature Publishing Group
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Nature, 604, 502. Nature Research
Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium & van Weering, JRT 2022, ' Mapping genomic loci implicates genes and synaptic biology in schizophrenia ', Nature, vol. 604, no. 7906, pp. 502-508 . https://doi.org/10.1038/s41586-022-04434-5
Nature 604, 502–508 (2022). doi:10.1038/s41586-022-04434-5
Digital.CSIC. Repositorio Institucional del CSIC
Trubetskoy, V, Pardiñas, A F, Qi, T, Panagiotaropoulou, G, Awasthi, S, Bigdeli, T B, Bryois, J, Chen, C-Y, Dennison, C A, Hall, L S, Lam, M, Watanabe, K, Frei, O, Ge, T, Harwood, J C, Koopmans, F, Magnusson, S, Richards, A L, Sidorenko, J, Wu, Y, Zeng, J, Grove, J, Kim, M, Li, Z, Voloudakis, G, Zhang, W, Adams, M, Agartz, I, Atkinson, E G, Agerbo, E, Al Eissa, M, Albus, M, Alexander, M, Alizadeh, B Z, Alptekin, K, Als, T D, Amin, F, Arolt, V, Arrojo, M, Athanasiu, L, Azevedo, M H, Demontis, D, Mattheisen, M, McGrath, J J, Meier, S, Chen, W J, Mors, O, Mortensen, P B, Børglum, A D, Yang, J & Indonesia Schizophrenia Consortium 2022, ' Mapping genomic loci implicates genes and synaptic biology in schizophrenia ', Nature, vol. 604, no. 7906, pp. 502-508 . https://doi.org/10.1038/s41586-022-04434-5
Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e8feb860cf70305337934afbb733ce
https://doi.org/10.1038/s41586-022-04434-5
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5
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer
Autor: Sun, Jing, Wang, Lijuan, Zhou, Xuan, Hu, Lidan, Yuan, Shuai, Bian, Zilong, Chen, Jie, Zhu, Yingshuang, Farrington, Susan M, Campbell, Harry, Ding, Kefeng, Zhang, Dongfeng, Dunlop, Malcolm G, Theodoratou, Evropi, Li, Xue
Publikováno v: Sun, J, Wang, L, Zhou, X, Hu, L, Yuan, S, Bian, Z, Chen, J, Zhu, Y, Farrington, S M, Campbell, H, Ding, K, Zhang, D, Dunlop, M G, Theodoratou, E & Li, X 2023, ' Cross-cancer pleiotropic analysis identifies three novel genetic risk variants for colorectal cancer ', Human Molecular Genetics, vol. 32, no. 12, pp. 2093-2102 . https://doi.org/10.1093/hmg/ddad044
Background To understand the shared genetic basis between colorectal cancer (CRC) and other cancers and identify potential pleiotropic loci for compensating the missing genetic heritability of CRC. Methods We conducted a systematic genome-wide pleiot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c53cefc71903266df637d0d5376387
https://doi.org/10.1093/hmg/ddad044
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6
LDAK-GBAT:Fast and powerful gene-based association testing using summary statistics
Autor: David Balding, Takiy eddine Berrandou, Doug Speed
Publikováno v: Berrandou, T-E, Balding, D & Speed, D 2023, ' LDAK-GBAT : Fast and powerful gene-based association testing using summary statistics ', American Journal of Human Genetics, vol. 110, no. 1, pp. 23-29 . https://doi.org/10.1016/j.ajhg.2022.11.010
Am J Hum Genet
We present LDAK-GBAT, a novel tool for gene-based association testing using summary statistics from genome-wide association studies. We first evaluate LDAK-GBAT using ten phenotypes from the UK Biobank. We show that LDAK-GBAT is computationally effic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9559413b6e3074b9becab8bce5452e30
https://pure.au.dk/portal/da/publications/ldakgbat(b6a549f1-3656-4860-9754-9ce5218cac9d).html
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7
Genetic and epigenetic regulation of Catechol-O-methyltransferase in relation to inflammation in chronic fatigue syndrome and Fibromyalgia
Autor: Andrea Polli, Jolien Hendrix, Kelly Ickmans, Jelena Bakusic, Manosij Ghosh, Dora Monteyne, Brigitte Velkeniers, Bram Bekaert, Jo Nijs, Lode Godderis
Background Catechol-O-methyltransferase (COMT) has been shown to influence clinical pain, descending modulation, and exercise-induced symptom worsening. COMT regulates nociceptive processing and inflammation, key pathophysiological features of Chroni
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fd9b008f749ca18c16760c686e131c
https://lirias.kuleuven.be/handle/20.500.12942/706328
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8
Demystifying non-coding GWAS variants:an overview of computational tools and methods
Autor: Marijn Schipper, Danielle Posthuma
Publikováno v: Schipper, M & Posthuma, D 2022, ' Demystifying non-coding GWAS variants : an overview of computational tools and methods ', Human molecular genetics, vol. 31, no. R1, pp. R73-R83 . https://doi.org/10.1093/hmg/ddac198
Schipper, M & Posthuma, D 2022, ' Demystifying non-coding GWAS variants : an overview of computational tools and methods ', Human Molecular Genetics, vol. 31, no. R1, pp. R73-R83 . https://doi.org/10.1093/hmg/ddac198
Genome-wide association studies (GWAS) have found the majority of disease-associated variants to be non-coding. Major efforts into the charting of the non-coding regulatory landscapes have allowed for the development of tools and methods which aim to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6572a34c68ecc826e25ced4ae1ab8e9a
https://hdl.handle.net/1871.1/b18cc308-15e0-4785-8b0c-6e551ef676e5
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9
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements
Autor: Lovelace J. Luquette, Michael B. Miller, Zinan Zhou, Craig L. Bohrson, Yifan Zhao, Hu Jin, Doga Gulhan, Javier Ganz, Sara Bizzotto, Samantha Kirkham, Tino Hochepied, Claude Libert, Alon Galor, Junho Kim, Michael A. Lodato, Juan I. Garaycoechea, Charles Gawad, Jay West, Christopher A. Walsh, Peter J. Park
Publikováno v: Nature Genetics, 54(10), 1564-1571. Nature Publishing Group
NATURE GENETICS
Nat Genet
Single-cell DNA sequencing data are generated from human neurons using primary template-directed amplification and analyzed using SCAN2, an improved genotyping tool. Indels are enriched in neuronal regulatory elements and may be deleterious. Accurate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbfb2ab572d96cf2841204754caaf5d
https://pure.knaw.nl/portal/en/publications/c32b40db-e719-45a1-8319-adee9a8a4292
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10
The Gender-Specific Association of DRD2 Polymorphism with Metabolic Syndrome in Patients with Schizophrenia
Autor: Diana Z. Paderina, Anastasiia S. Boiko, Ivan V. Pozhidaev, Irina A. Mednova, Anastasia A. Goncharova, Anna V. Bocharova, Olga Yu. Fedorenko, Elena G. Kornetova, Arkadiy V. Semke, Nikolay A. Bokhan, Anton J. M. Loonen, Svetlana A. Ivanova
Publikováno v: Genes, 13(8):1312. MDPI AG
Genes; Volume 13; Issue 8; Pages: 1312
BACKGROUND: Metabolic syndrome is widespread in patients with schizophrenia receiving long-term antipsychotic therapy. Dopamine D2 receptors play an important role in mediating both the therapeutic actions of antipsychotics and their side effects. Th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9cd6380be95eb5e0073efdae2828bc4
https://research.rug.nl/en/publications/6a46b905-29e8-4eac-ac38-7e520ea78fe3
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