Výsledky vyhledávání - "Nature genetics"

New insights into the genetic etiology of Alzheimer’s disease and related dementias Autor Holmans, Peter A., de Rojas, Itziar, Bis, Joshua C., Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Antúnez, Carmen, Arosio, Beatrice, Athanasiu, Lavinia, Banaj, Nerisa, Below, Jennifer E., Benussi, Luisa, Bossù, Paola, Burholt, Vanessa, Calero, Miguel, Cervera-Carles, Laura, Chen, Hung-Hsin, Custodero, Carlo, de Paiva Lopes, Katia, DeStefano, Anita, Dichgans, Martin, Diehl-Schmid, Janine, Duron, Emmanuelle, Dufouil, Carole, Espinosa, Ana, Nielsen, Sune Fallgaard, Fenoglio, Chiara, Ferrari, Raffaele, Fox, Nick C., Frank-García, Ana, Galimberti, Daniela, Grande, Giulia, Green, Emma, Grünblatt, Edna, Grunin, Michelle, Gudnason, Vilmundur, Hampel, Harald, Hausner, Lucrezia, Hulsman, Marc, Kivipelto, Miia, Kornhuber, Johannes, Kuzma, Amanda B., Launer, Lenore, Ma, Yiyi, Maier, Wolfgang, Montes, Angel Martín, Masullo, Carlo, Mendoza, Silvia, Moebus, Susanne, Morgan, Kevin, Muchnik, Carolina, Mukherjee, Shubhabrata, Nacmias, Benedetta, Ngandu, Tiia, Nicolas, Gael, Nordestgaard, Børge G., Ortega, Gemma, Paolo, Caffarra, Papenberg, Goran, Peloso, Gina, Pérez-Cordón, Alba, Pérez-Tur, Jordi, Pineda, Juan A., Pisanu, Claudia, Polak, Thomas, Quintela, Inés, Rábano, Alberto, Reinders, Marcel J. T., Riedel-Heller, Steffi, Rubino, Elisa, Rujescu, Dan, Sanabria, Ángela, Sánchez-Valle, Raquel, Satizabal, Claudia L., Scarpini, Elio, Scheltens, Philip, Schmid, Matthias, Schneider, Anja, Serrano, Manuel, Solomon, Alina, Song, Yeunjoo, Spalletta, Gianfranco, Squassina, Alessio, Stordal, Eystein, Tartan, Juan Pablo, Tárraga, Lluís, Thomas, Tegos, Tosto, Giuseppe, Wallon, David, Wang, Li-San, Weinhold, Leonie, Wiltfang, Jens, Zare, Habil, Farrer, Lindsay A., Psaty, Bruce M., Williams, Julie, Frikke-Schmidt, Ruth, Deleuze, Jean-François

“…Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of…”
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A cross-population atlas of genetic associations for 220 human phenotypes Autor Sakaue, Saori, Kanai, Masahiro, Tanigawa, Yosuke, Karjalainen, Juha, Kurki, Mitja, Koshiba, Seizo, Narita, Akira, Konuma, Takahiro, Yamamoto, Kenichi, Akiyama, Masato, Ishigaki, Kazuyoshi, Suzuki, Akari, Suzuki, Ken, Obara, Wataru, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Suzuki, Takao, Shinozaki, Nobuaki, Yamaguchi, Hiroki, Minami, Shiro, Murayama, Shigeo, Yoshimori, Kozo, Nagayama, Satoshi, Obata, Daisuke, Higashiyama, Masahiko, Masumoto, Akihide, Koretsune, Yukihiro, Ito, Kaoru, Terao, Chikashi, Yamauchi, Toshimasa, Komuro, Issei, Kadowaki, Takashi, Tamiya, Gen, Yamamoto, Masayuki, Nakamura, Yusuke, Kubo, Michiaki, Murakami, Yoshinori, Yamamoto, Kazuhiko, Kamatani, Yoichiro, Palotie, Aarno, Rivas, Manuel A., Daly, Mark J., Matsuda, Koichi, Okada, Yukinori

“…Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic…”
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression Autor Claringbould, Annique, Westra, Harm-Jan, Bonder, Marc Jan, Deelen, Patrick, Kirsten, Holger, Saha, Ashis, Yazar, Seyhan, Brugge, Harm, Oelen, Roy, de Vries, Dylan H., van der Wijst, Monique G. P., Kasela, Silva, Pervjakova, Natalia, Alves, Isabel, Favé, Marie-Julie, Agbessi, Mawussé, Christiansen, Mark W., Jansen, Rick, Seppälä, Ilkka, Tong, Lin, Teumer, Alexander, Schramm, Katharina, Hemani, Gibran, Verlouw, Joost, Yaghootkar, Hanieh, Sönmez Flitman, Reyhan, Brown, Andrew, Kukushkina, Viktorija, Kalnapenkis, Anette, Rüeger, Sina, Porcu, Eleonora, Kettunen, Johannes, Lee, Bernett, Zhang, Futao, Qi, Ting, Arindrarto, Wibowo, Beutner, Frank, Dmitrieva, Julia, Elansary, Mahmoud, Fairfax, Benjamin P., Georges, Michel, Heijmans, Bastiaan T., Hewitt, Alex W., Kähönen, Mika, Kim, Yungil, Knight, Julian C., Kovacs, Peter, Krohn, Knut, Li, Shuang, Loeffler, Markus, Marigorta, Urko M., Mei, Hailang, Momozawa, Yukihide, Müller-Nurasyid, Martina, Nauck, Matthias, Nivard, Michel G., Penninx, Brenda W. J. H., Pritchard, Jonathan K., Raitakari, Olli T., Rotzschke, Olaf, Slagboom, Eline P., Stehouwer, Coen D. A., Stumvoll, Michael, Sullivan, Patrick, ’t Hoen, Peter A. C., Thiery, Joachim, Tönjes, Anke, van Dongen, Jenny, van Iterson, Maarten, Veldink, Jan H., Völker, Uwe, Warmerdam, Robert, Wijmenga, Cisca, Swertz, Morris, Andiappan, Anand, Montgomery, Grant W., Ripatti, Samuli, Perola, Markus, Kutalik, Zoltan, Dermitzakis, Emmanouil, Bergmann, Sven, van Meurs, Joyce, Prokisch, Holger, Ahsan, Habibul, Pierce, Brandon L., Lehtimäki, Terho, Psaty, Bruce M., Gharib, Sina A., Awadalla, Philip, Milani, Lili, Ouwehand, Willem H., Downes, Kate, Stegle, Oliver, Battle, Alexis, Visscher, Peter M., Yang, Jian, Powell, Joseph, Gibson, Greg, Esko, Tõnu, Franke, Lude

“…Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene…”
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Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases Autor Chen, Yiheng, Lu, Tianyuan, Pettersson-Kymmer, Ulrika, Stewart, Isobel D., Butler-Laporte, Guillaume, Nakanishi, Tomoko, Cerani, Agustin, Liang, Kevin Y. H., Yoshiji, Satoshi, Willett, Julian Daniel Sunday, Su, Chen-Yang, Raina, Parminder, Greenwood, Celia M. T., Farjoun, Yossi, Forgetta, Vincenzo, Langenberg, Claudia, Zhou, Sirui, Ohlsson, Claes, Richards, J. Brent

“…Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood metabolites and…”
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Large-scale integration of the plasma proteome with genetics and disease Autor Ferkingstad, Egil, Sulem, Patrick, Atlason, Bjarni A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Styrmisdottir, Edda L., Gunnarsdottir, Kristbjorg, Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Bjarni V., Jensson, Brynjar O., Zink, Florian, Halldorsson, Gisli H., Masson, Gisli, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Juliusson, Kristinn, Magnusson, Magnus K., Magnusson, Olafur Th, Fridriksdottir, Run, Saevarsdottir, Saedis, Gudjonsson, Sigurjon A., Stacey, Simon N., Rognvaldsson, Solvi, Eiriksdottir, Thjodbjorg, Olafsdottir, Thorunn A., Steinthorsdottir, Valgerdur, Tragante, Vinicius, Ulfarsson, Magnus O., Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Lund, Sigrun H., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Stefansson, Kari

“…The plasma proteome can help bridge the gap between the genome and diseases. Here we describe genome-wide association studies (GWASs) of plasma protein levels…”
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A single-cell and spatially resolved atlas of human breast cancers Autor Wu, Sunny Z., Al-Eryani, Ghamdan, Roden, Daniel Lee, Junankar, Simon, Harvey, Kate, Andersson, Alma, Thennavan, Aatish, Wang, Chenfei, Torpy, James R., Bartonicek, Nenad, Wang, Taopeng, Larsson, Ludvig, Kaczorowski, Dominik, Weisenfeld, Neil I., Uytingco, Cedric R., Chew, Jennifer G., Bent, Zachary W., Chan, Chia-Ling, Gnanasambandapillai, Vikkitharan, Dutertre, Charles-Antoine, Gluch, Laurence, Hui, Mun N., Beith, Jane, Parker, Andrew, Robbins, Elizabeth, Segara, Davendra, Cooper, Caroline, Mak, Cindy, Chan, Belinda, Warrier, Sanjay, Ginhoux, Florent, Millar, Ewan, Powell, Joseph E., Williams, Stephen R., Liu, X. Shirley, O’Toole, Sandra, Lim, Elgene, Lundeberg, Joakim, Perou, Charles M., Swarbrick, Alexander

“…Breast cancers are complex cellular ecosystems where heterotypic interactions play central roles in disease progression and response to therapy. However, our…”
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Large-scale association analyses identify host factors influencing human gut microbiome composition Autor Kurilshikov, Alexander, Medina-Gomez, Carolina, Bacigalupe, Rodrigo, Radjabzadeh, Djawad, Wang, Jun, Demirkan, Ayse, Le Roy, Caroline I., Raygoza Garay, Juan Antonio, Finnicum, Casey T., Liu, Xingrong, Zhernakova, Daria V., Bonder, Marc Jan, Hansen, Tue H., Frost, Fabian, Rühlemann, Malte C., Turpin, Williams, Moon, Jee-Young, Kim, Han-Na, Lüll, Kreete, Barkan, Elad, Shah, Shiraz A., Fornage, Myriam, Szopinska-Tokov, Joanna, Wallen, Zachary D., Borisevich, Dmitrii, Agreus, Lars, Andreasson, Anna, Bang, Corinna, Bedrani, Larbi, Bell, Jordana T., Bisgaard, Hans, Boehnke, Michael, Boomsma, Dorret I., Burk, Robert D., Claringbould, Annique, Croitoru, Kenneth, Davies, Gareth E., van Duijn, Cornelia M., Duijts, Liesbeth, Falony, Gwen, Fu, Jingyuan, van der Graaf, Adriaan, Hansen, Torben, Homuth, Georg, Hughes, David A., Ijzerman, Richard G., Jackson, Matthew A., Jaddoe, Vincent W. V., Joossens, Marie, Jørgensen, Torben, Keszthelyi, Daniel, Knight, Rob, Laakso, Markku, Laudes, Matthias, Launer, Lenore J., Lieb, Wolfgang, Lusis, Aldons J., Masclee, Ad A. M., Moll, Henriette A., Mujagic, Zlatan, Qibin, Qi, Rothschild, Daphna, Shin, Hocheol, Sørensen, Søren J., Steves, Claire J., Thorsen, Jonathan, Timpson, Nicholas J., Vieira-Silva, Sara, Völker, Uwe, Völzke, Henry, Võsa, Urmo, Wade, Kaitlin H., Walter, Susanna, Watanabe, Kyoko, Weiss, Stefan, Weiss, Frank U., Weissbrod, Omer, Westra, Harm-Jan, Willemsen, Gonneke, Payami, Haydeh, Jonkers, Daisy M. A. E., Arias Vasquez, Alejandro, de Geus, Eco J. C., Stokholm, Jakob, Segal, Eran, Kim, Hyung-Lae, Kaplan, Robert C., Spector, Tim D., Uitterlinden, Andre G., Rivadeneira, Fernando, Franke, Andre, Lerch, Markus M., Franke, Lude, Sanna, Serena, D’Amato, Mauro, Pedersen, Oluf, Paterson, Andrew D., Kraaij, Robert, Raes, Jeroen, Zhernakova, Alexandra

“…To study the effect of host genetics on gut microbiome composition, the MiBioGen consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome…”
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology Autor Mullins, Niamh, O’Connell, Kevin S., Coleman, Jonathan R. I., Qiao, Zhen, Bigdeli, Tim B., Hagenaars, Saskia P., Krebs, Kristi, Panagiotaropoulou, Georgia, Schilder, Brian M., Sloofman, Laura G., Winsvold, Bendik S., Al Eissa, Mariam, Albani, Diego, Alliey-Rodriguez, Ney, Antoniou, Anastasia, Beins, Eva C., Boks, Marco P., Brum, Murielle, Byerley, William, Cairns, Murray, Cervantes, Pablo, Cuellar-Barboza, Alfredo, Czerski, Piotr M., Djurovic, Srdjan, Douzenis, Athanassios, Foroud, Tatiana M., Giørtz Pedersen, Marianne, Gordon-Smith, Katherine, Grove, Jakob, Guzman-Parra, José, Haraldsson, Magnus, Herms, Stefan, Hoffmann, Per, Holmans, Peter A., Huckins, Laura, Johnson, Jessica S., Kalman, Janos L., Knowles, James A., Koromina, Maria, Kranzler, Henry R., Lee, Phil H., Lewis, Catrin, Lundberg, Martin, MacIntyre, Donald J., Magnusson, Sigurdur H., Maier, Wolfgang, Medland, Sarah E., Moran, Jennifer L., O’Brien, Niamh, Olde Loohuis, Loes M., Oruc, Lilijana, Papiol, Sergi, Pardiñas, Antonio F., Perry, Amy, Sánchez-Mora, Cristina, Sharp, Sally, Spijker, Anne T., Stein, Dan J., Strauss, John S., Tooney, Paul, Tsermpini, Evangelia-Eirini, Vedder, Helmut, Walters, James T. R., Witt, Stephanie H., Babadjanova, Gulja, Blackwood, Douglas H. R., Carr, Vaughan J., Dannlowski, Udo, Dikeos, Dimitris, Etain, Bruno, Frye, Mark, Gershon, Elliot S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Hougaard, David M., Hveem, Kristian, Jablensky, Assen V., Kirov, George, Lewis, Cathryn M., Loughland, Carmel, Martin, Nicholas G., McElroy, Susan L., Melle, Ingrid, Milani, Lili, Nievergelt, Caroline M., Nöthen, Markus M., O’Donovan, Michael C., Oedegaard, Ketil J., Olsson, Tomas, Perlis, Roy H., Ribasés, Marta, Rouleau, Guy A., Schalling, Martin, Schulze, Thomas G., Serretti, Alessandro, Smoller, Jordan W., Stefansson, Kari, Stordal, Eystein, Vieta, Eduard, Nurnberger, John I.

“…Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549…”
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Computationally efficient whole-genome regression for quantitative and binary traits Autor Mbatchou, Joelle, Barnard, Leland, Backman, Joshua, Marcketta, Anthony, Kosmicki, Jack A., Ziyatdinov, Andrey, Benner, Christian, O’Dushlaine, Colm, Barber, Mathew, Boutkov, Boris, Habegger, Lukas, Ferreira, Manuel, Baras, Aris, Reid, Jeffrey, Abecasis, Goncalo, Maxwell, Evan, Marchini, Jonathan

“…Genome-wide association analysis of cohorts with thousands of phenotypes is computationally expensive, particularly when accounting for sample relatedness or…”
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Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains Autor Demontis, Ditte, Walters, G. Bragi, Athanasiadis, Georgios, Walters, Raymond, Therrien, Karen, Nielsen, Trine Tollerup, Farajzadeh, Leila, Voloudakis, Georgios, Bendl, Jaroslav, Zeng, Biau, Zhang, Wen, Grove, Jakob, Als, Thomas D., Duan, Jinjie, Satterstrom, F. Kyle, Bybjerg-Grauholm, Jonas, Bækved-Hansen, Marie, Gudmundsson, Olafur O., Magnusson, Sigurdur H., Baldursson, Gisli, Davidsdottir, Katrin, Haraldsdottir, Gyda S., Agerbo, Esben, Hoffman, Gabriel E., Dalsgaard, Søren, Martin, Joanna, Ribasés, Marta, Boomsma, Dorret I., Soler Artigas, Maria, Roth Mota, Nina, Howrigan, Daniel, Medland, Sarah E., Zayats, Tetyana, Rajagopal, Veera M., Nordentoft, Merete, Mors, Ole, Hougaard, David M., Mortensen, Preben Bo, Daly, Mark J., Faraone, Stephen V., Stefansson, Hreinn, Roussos, Panos, Franke, Barbara, Werge, Thomas, Neale, Benjamin M., Stefansson, Kari, Børglum, Anders D.

“…Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder with a major genetic component. Here, we present a genome-wide…”
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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease Autor Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., Posthuma, Danielle

“…Late-onset Alzheimer’s disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the…”
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants Autor Aragam, Krishna G., Jiang, Tao, Goel, Anuj, Kanoni, Stavroula, Wolford, Brooke N., Atri, Deepak S., Weeks, Elle M., Wang, Minxian, Hindy, George, Zhou, Wei, Grace, Christopher, Roselli, Carolina, Marston, Nicholas A., Kamanu, Frederick K., Surakka, Ida, Venegas, Loreto Muñoz, Sherliker, Paul, Koyama, Satoshi, Ishigaki, Kazuyoshi, Åsvold, Bjørn O., Brown, Michael R., Brumpton, Ben, de Vries, Paul S., Giannakopoulou, Olga, Giardoglou, Panagiota, Gudbjartsson, Daniel F., Güldener, Ulrich, Haider, Syed M. Ijlal, Helgadottir, Anna, Ibrahim, Maysson, Kastrati, Adnan, Kessler, Thorsten, Kyriakou, Theodosios, Konopka, Tomasz, Li, Ling, Ma, Lijiang, Meitinger, Thomas, Mucha, Sören, Munz, Matthias, Murgia, Federico, Nielsen, Jonas B., Nöthen, Markus M., Pang, Shichao, Reinberger, Tobias, Schnitzler, Gavin, Smedley, Damian, Thorleifsson, Gudmar, von Scheidt, Moritz, Ulirsch, Jacob C., Arnar, David O., Burtt, Noël P., Costanzo, Maria C., Flannick, Jason, Ito, Kaoru, Jang, Dong-Keun, Kamatani, Yoichiro, Khera, Amit V., Komuro, Issei, Kullo, Iftikhar J., Lotta, Luca A., Nelson, Christopher P., Roberts, Robert, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Webb, Thomas R., Baras, Aris, Björkegren, Johan L. M., Boerwinkle, Eric, Dedoussis, George, Holm, Hilma, Hveem, Kristian, Melander, Olle, Morrison, Alanna C., Orho-Melander, Marju, Rallidis, Loukianos S., Ruusalepp, Arno, Sabatine, Marc S., Stefansson, Kari, Zalloua, Pierre, Ellinor, Patrick T., Farrall, Martin, Danesh, John, Ruff, Christian T., Finucane, Hilary K., Hopewell, Jemma C., Clarke, Robert, Gupta, Rajat M., Erdmann, Jeanette, Samani, Nilesh J., Schunkert, Heribert, Watkins, Hugh, Willer, Cristen J., Deloukas, Panos, Kathiresan, Sekar, Butterworth, Adam S.

“…The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a…”
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Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals Autor Okbay, Aysu, Wu, Yeda, Wang, Nancy, Jayashankar, Hariharan, Bennett, Michael, Nehzati, Seyed Moeen, Sidorenko, Julia, Kweon, Hyeokmoon, Goldman, Grant, Gjorgjieva, Tamara, Jiang, Yunxuan, Hicks, Barry, Tian, Chao, Hinds, David A., Ahlskog, Rafael, Magnusson, Patrik K. E., Oskarsson, Sven, Hayward, Caroline, Campbell, Archie, Porteous, David J., Freese, Jeremy, Herd, Pamela, Watson, Chelsea, Jala, Jonathan, Conley, Dalton, Koellinger, Philipp D., Johannesson, Magnus, Laibson, David, Meyer, Michelle N., Lee, James J., Kong, Augustine, Yengo, Loic, Cesarini, David, Turley, Patrick, Visscher, Peter M., Beauchamp, Jonathan P., Benjamin, Daniel J., Young, Alexander I.

“…We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately…”
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ArchR is a scalable software package for integrative single-cell chromatin accessibility analysis Autor Granja, Jeffrey M., Corces, M. Ryan, Pierce, Sarah E., Bagdatli, S. Tansu, Choudhry, Hani, Chang, Howard Y., Greenleaf, William J.

“…The advent of single-cell chromatin accessibility profiling has accelerated the ability to map gene regulatory landscapes but has outpaced the development of…”
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation Autor Kitajima, Hidetoshi, Kim, Young Jin, Horikoshi, Momoko, Moon, Sanghoon, Robertson, Neil R., Nano, Jana, Lamri, Amel, Nakatochi, Masahiro, Graff, Mariaelisa, Yao, Jie, Bielak, Lawrence F., Hai, Yang, Schmidt, Ellen M., Nousome, Darryl, Trompet, Stella, Ahmad, Meraj, Noordam, Raymond, Lim, Victor J. Y., Joo, Yoonjung Yoonie, Prins, Bram Peter, Chen, Guanjie, Jensen, Richard A., Kabagambe, Edmond K., Xiang, Anny H., Flanagan, Jack, Adair, Linda S., Akiyama, Masato, Bertoni, Alain, Chee, Miao-Li, Chen, Shyh-Huei, Chen, Yuan-Tsong, Das, Swapan K., de Silva, H. Janaka, Eckardt, Kai-Uwe, Evans, Daniel S., Evans, Michele K., Franco, Oscar H., Fuchsberger, Christian, Genter, Pauline, Goodarzi, Mark O., Gordon-Larsen, Penny, Gorkin, David, Guo, Yu, Howard, Annie-Green, Hung, Yi-Jen, Hwang, Mi Yeong, Ingelsson, Martin, Jonas, Jost B., Jørgensen, Torben, Kamatani, Yoichiro, Kasturiratne, Anuradhani, Katsuya, Tomohiro, Keaton, Jacob M., Kho, Abel N., Khor, Chiea-Chuen, Läll, Kristi, Li-Gao, Ruifang, Liu, Jianjun, Luan, Jian’an, Luo, Xi, Lyssenko, Valeriya, Metspalu, Andres, Morris, Andrew D., Nalls, Michael A., Ntalla, Ioanna, Sattar, Naveed, Shi, Jinxiu, Shriner, Daniel, Stilp, Adrienne M., Takahashi, Atsushi, Taylor, Kent D., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Varma, Rohit, Yamamoto, Ken, Yoon, Kyungheon, Yusuf, Salim, Zheng, Wei, Cho, Yoon Shin, Lind, Lars, Province, Michael A., Zonderman, Alan B., Becker, Diane M., Yokota, Mitsuhiro, Chen, Yii-Der Ida, Ma, Ronald C. W., Chandak, Giriraj R., Sale, Michèle M., Shu, Xiao-Ou, Jukema, J. Wouter, McKean-Cowdin, Roberta, Kooner, Jaspal S., North, Kari E., Florez, Jose C., Maeda, Shiro, Stefansson, Kari, Mohlke, Karen L., Gloyn, Anna L., Below, Jennifer E., Rotter, Jerome I.

“…We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055…”
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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy Autor Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco

“…We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant ( P  < 1.28 × 10 −11…”
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Tumor mutational load predicts survival after immunotherapy across multiple cancer types Autor Samstein, Robert M., Lee, Chung-Han, Shoushtari, Alexander N., Hellmann, Matthew D., Shen, Ronglai, Janjigian, Yelena Y., Barron, David A., Zehir, Ahmet, Jordan, Emmet J., Omuro, Antonio, Kaley, Thomas J., Kendall, Sviatoslav M., Motzer, Robert J., Hakimi, A. Ari, Voss, Martin H., Russo, Paul, Rosenberg, Jonathan, Iyer, Gopa, Bochner, Bernard H., Bajorin, Dean F., Al-Ahmadie, Hikmat A., Chaft, Jamie E., Rudin, Charles M., Riely, Gregory J., Baxi, Shrujal, Ho, Alan L., Wong, Richard J., Pfister, David G., Wolchok, Jedd D., Barker, Christopher A., Gutin, Philip H., Brennan, Cameron W., Tabar, Viviane, Mellinghoff, Ingo K., DeAngelis, Lisa M., Ariyan, Charlotte E., Lee, Nancy, Tap, William D., Gounder, Mrinal M., D’Angelo, Sandra P., Saltz, Leonard, Stadler, Zsofia K., Scher, Howard I., Baselga, Jose, Razavi, Pedram, Klebanoff, Christopher A., Yaeger, Rona, Segal, Neil H., Ku, Geoffrey Y., DeMatteo, Ronald P., Ladanyi, Marc, Rizvi, Naiyer A., Berger, Michael F., Riaz, Nadeem, Solit, David B., Chan, Timothy A., Morris, Luc G. T.

“…Immune checkpoint inhibitor (ICI) treatments benefit some patients with metastatic cancers, but predictive biomarkers are needed. Findings in selected cancer…”
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A generalized linear mixed model association tool for biobank-scale data Autor Jiang, Longda, Zheng, Zhili, Fang, Hailing, Yang, Jian

“…Compared with linear mixed model-based genome-wide association (GWA) methods, generalized linear mixed model (GLMM)-based methods have better statistical…”
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The trans-ancestral genomic architecture of glycemic traits Autor Marenne, Gaëlle, Horikoshi, Momoko, Chu, Audrey Y., Hong, Jaeyoung, Hottenga, Jouke-Jan, Kaakinen, Marika A., Moreno-Macias, Hortensia, Nolte, Ilja M., Raulerson, Chelsea K., Chen, Brian H., Hai, Yang, He, Jing, Heianza, Yoriko, Huang, Tao, Huerta-Chagoya, Alicia, Jensen, Richard A., Lange, Leslie A., Langefeld, Carl D., Li, Man, Nag, Abhishek, Pistis, Giorgio, Raffield, Laura, Robertson, Neil R., Rueedi, Rico, Ryan, Kathleen, Saxena, Richa, van der Most, Peter J., Wang, Nan, Warren, Helen R., Wilsgaard, Tom, Wong, Andrew, Zafarmand, Mohammad Hadi, Baldassarre, Damiano, Beekman, Marian, Bergman, Richard N., Bornstein, Stefan R., Campbell, Archie, Chang, Yi Cheng, Eiriksdottir, Gudny, Han, Sohee, Hartman, Catharina A., Ichihara, Sahoko, Katsuya, Tomohiro, Khor, Chiea Chuen, Kolcic, Ivana, Kuulasmaa, Teemu, Lemaitre, Rozenn N., Lin, Shih-Yi, Linneberg, Allan, Matsuda, Fumihiko, Moon, Sanghoon, Ohyagi, Yasumasa, Qi, Qibin, Sandow, Kevin, Thuesen, Betina, van Dam, Rob M., Willems van Dijk, Ko, Adair, Linda S., Boehnke, Michael, Bønnelykke, Klaus, Boomsma, D. I., Buchanan, Thomas A., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Collins, Francis S., Cucca, Francesco, de Silva, H. Janaka, Ferrucci, Luigi, Florez, Jose C., Franks, Paul W., Grimsgaard, Sameline, Guo, Xiuqing, Huang, Wei, Kato, Norihiro, Koistinen, Heikki A., Kuh, Diana, Kumari, Meena, Launer, Lenore J., Mook-Kanamori, Dennis O., Pedersen, Oluf, Pramstaller, Peter P., Province, Michael A., Psaty, Bruce M., Rosendaal, Frits R., Shu, Xiao-ou, Tai, E. Shyong, Timpson, Nicholas J., Tusie, Teresa, Uusitupa, Matti, Vrijkotte, Tanja G. M., Wei, Wen B., Willemsen, Gonneke, Wong, Tien-Yin, Xiang, Anny H., Yokota, Mitsuhiro, Zeggini, Eleftheria, McCarthy, Mark I., Dupuis, Josée, Parker, Stephen C. J.

“…Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on…”
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing Autor Ahmad, Shahzad, Vardarajan, Badri N., Hoffmann, Per, Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Smith, Albert V., Qu, Liming, Zhao, Yi, Del Zompo, Maria, Uphill, James, Cantwell, Laura B., Garzia, Fabienne, Fin, Bertrand, Barber, Robert C., Mayhaus, Manuel, Hartmann, Annette M., Lovestone, Simon, Garcia, Melissa E., Fairchild, Thomas J., Karamujić-Čomić, Hata, Frosch, Matthew P., Maier, Wolfgang, Li, Shuo, Huebinger, Ryan M., Kamboh, M. Ilyas, Yang, Qiong, Haapasalo, Annakaisa, Lawlor, Brian, Solfrizzi, Vincenzo, Frisardi, Vincenza, Alvarez, Ignacio, Salani, Francesca, Fievet, Nathalie, Maletta, Raffaele Giovanni, Tsuang, Debby W., Soininen, Hilkka, Avramidou, Despoina, Panza, Francesco, Frölich, Lutz, Passmore, Peter, Schott, Jonathan M., Powell, John F., Burns, Jeffrey M., Hardy, John, Carrasquillo, Minerva M., Crocco, Elizabeth A., Faber, Kelley M., Scherer, Martin, Ferris, Steven, Galasko, Douglas R., Geschwind, Daniel H., Honig, Lawrence S., Cushion, Thomas D., Hollingworth, Paul, Hulette, Christine M., Jessen, Frank, Lah, James J., Leverenz, James B., Morgan, Kevin, Mash, Deborah C., McCurry, Susan M., Miller, Carol A., Shaw, Christopher E., Myers, Amanda J., Paulson, Henry L., Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Potter, Huntington, Sorbi, Sandro, Reitz, Christiane, Ringman, John M., Rosen, Howard J., Mecocci, Patrizia, Slifer, Susan, Spina, Salvatore, Vinters, Harry V., Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Crane, Paul K., Bennett, David, Boccardi, Virginia, Lopez, Oscar L., Deloukas, Panagiotis, Cruchaga, Carlos, Berr, Claudine, Younkin, Steven G., Clarimon, Jordi, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, C. O’Donovan, Michael, Haines, Jonathan L., Gudnason, Vilmundur, Mayeux, Richard, Seshadri, Sudha, Williams, Julie

“…Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large…”
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