Exome sequencing and analysis of 454,787 UK Biobank participants von Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

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Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease von Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps von Mahajan, Anubha, Taliun, Daniel, Thurner, Matthias, Robertson, Neil R., Torres, Jason M., Rayner, N. William, Payne, Anthony J., Steinthorsdottir, Valgerdur, Scott, Robert A., Grarup, Niels, Schmidt, Ellen M., Wuttke, Matthias, Sarnowski, Chloé, Mägi, Reedik, Nano, Jana, Gieger, Christian, Trompet, Stella, Lecoeur, Cécile, Preuss, Michael H., Prins, Bram Peter, Guo, Xiuqing, Bielak, Lawrence F., Below, Jennifer E., Bowden, Donald W., Kim, Young Jin, Petty, Lauren E., Sim, Xueling, Bennett, Amanda J., Bork-Jensen, Jette, Brummett, Chad M., Canouil, Mickaël, Ec kardt, Kai-Uwe, Fischer, Krista, Kardia, Sharon L. R., Kronenberg, Florian, Läll, Kristi, Luan, Jian’an, Ntalla, Ioanna, Nylander, Vibe, Schönherr, Sebastian, Schurmann, Claudia, Yengo, Loïc, Bottinger, Erwin P., Brandslund, Ivan, Christensen, Cramer, Dedoussis, George, Florez, Jose C., Ford, Ian, Franco, Oscar H., Frayling, Timothy M., Giedraitis, Vilmantas, Hackinger, Sophie, Hattersley, Andrew T., Herder, Christian, Ikram, M. Arfan, Jørgensen, Marit E., Jørgensen, Torben, Kriebel, Jennifer, Kuusisto, Johanna, Ligthart, Symen, Linneberg, Allan, Lyssenko, Valeriya, Mamakou, Vasiliki, Meitinger, Thomas, Morris, Andrew D., Nadkarni, Girish, Pankow, James S., Peters, Annette, Sattar, Naveed, Stančáková, Alena, Strauch, Konstantin, Taylor, Kent D., Thorand, Barbara, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tuomilehto, Jaakko, Witte, Daniel R., Dupuis, Josée, Peyser, Patricia A., Zeggini, Eleftheria, Froguel, Philippe, Ingelsson, Erik, Lind, Lars, Laakso, Markku, Collins, Francis S., Jukema, J. Wouter, Grallert, Harald, Metspalu, Andres, Köttgen, Anna, Abecasis, Goncalo R., Meigs, James B., Rotter, Jerome I., Marchini, Jonathan, Hansen, Torben, Langenberg, Claudia, Wareham, Nicholas J., Stefansson, Kari, Morris, Andrew P., Boehnke, Michael, McCarthy, Mark I.

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Next-generation genotype imputation service and methods von Das, Sayantan, Forer, Lukas, Schönherr, Sebastian, Sidore, Carlo, Locke, Adam E, Kwong, Alan, Vrieze, Scott I, Chew, Emily Y, Levy, Shawn, McGue, Matt, Schlessinger, David, Stambolian, Dwight, Loh, Po-Ru, Iacono, William G, Swaroop, Anand, Scott, Laura J, Cucca, Francesco, Kronenberg, Florian, Boehnke, Michael, Abecasis, Gonçalo R, Fuchsberger, Christian

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Exome sequencing of Finnish isolates enhances rare-variant association power von Locke, Adam E., Steinberg, Karyn Meltz, Chiang, Charleston W. K., Service, Susan K., Havulinna, Aki S., Stell, Laurel, Pirinen, Matti, Abel, Haley J., Chiang, Colby C., Fulton, Robert S., Jackson, Anne U., Kang, Chul Joo, Kanchi, Krishna L., Koboldt, Daniel C., Larson, David E., Nelson, Joanne, Nicholas, Thomas J., Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J., Stringham, Heather M., Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G., Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K., Stitziel, Nathan O., Wilson, Richard K., Hall, Ira M., Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B.

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Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci von Yin, Xianyong, Chan, Lap Sum, Bose, Debraj, Jackson, Anne U., VandeHaar, Peter, Locke, Adam E., Fuchsberger, Christian, Stringham, Heather M., Welch, Ryan, Yu, Ketian, Fernandes Silva, Lilian, Service, Susan K., Zhang, Daiwei, Hector, Emily C., Young, Erica, Ganel, Liron, Das, Indraniel, Abel, Haley, Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Wagner, Gregory R., Kang, Jian, Morrison, Jean, Burant, Charles F., Collins, Francis S., Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Mohlke, Karen L., Scott, Laura J., Wen, Xiaoquan, Fauman, Eric B., Laakso, Markku, Boehnke, Michael

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Mapping and characterization of structural variation in 17,795 human genomes von Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.

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Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans von Carlson, Jedidiah, Locke, Adam E., Flickinger, Matthew, Zawistowski, Matthew, Levy, Shawn, Myers, Richard M., Boehnke, Michael, Kang, Hyun Min, Scott, Laura J., Li, Jun Z., Zöllner, Sebastian

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Common and rare variant associations with clonal haematopoiesis phenotypes von Kessler, Michael D., Damask, Amy, O’Keeffe, Sean, Banerjee, Nilanjana, Li, Dadong, Watanabe, Kyoko, Marketta, Anthony, Van Meter, Michael, Semrau, Stefan, Horowitz, Julie, Tang, Jing, Kosmicki, Jack A., Rajagopal, Veera M., Zou, Yuxin, Houvras, Yariv, Ghosh, Arkopravo, Gillies, Christopher, Mbatchou, Joelle, White, Ryan R., Verweij, Niek, Bovijn, Jonas, Parikshak, Neelroop N., LeBlanc, Michelle G., Jones, Marcus, Glass, David J., Lotta, Luca A., Cantor, Michael N., Atwal, Gurinder S., Locke, Adam E., Ferreira, Manuel A. R., Deering, Raquel, Paulding, Charles, Shuldiner, Alan R., Thurston, Gavin, Ferrando, Adolfo A., Salerno, Will, Reid, Jeffrey G., Overton, John D., Marchini, Jonathan, Kang, Hyun M., Baras, Aris, Abecasis, Gonçalo R., Jorgenson, Eric

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Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum von Ganna, Andrea, Satterstrom, F. Kyle, Zekavat, Seyedeh M., Das, Indraniel, Kurki, Mitja I., Churchhouse, Claire, Alfoldi, Jessica, Martin, Alicia R., Havulinna, Aki S., Byrnes, Andrea, Thompson, Wesley K., Nielsen, Philip R., Karczewski, Konrad J., Saarentaus, Elmo, Rivas, Manuel A., Gupta, Namrata, Pietiläinen, Olli, Emdin, Connor A., Lescai, Francesco, Bybjerg-Grauholm, Jonas, Flannick, Jason, Mercader, Josep M., Udler, Miriam, Laakso, Markku, Salomaa, Veikko, Hultman, Christina, Ripatti, Samuli, Hämäläinen, Eija, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Nordentoft, Merete, Hougaard, David M., Mors, Ole, Werge, Thomas, Mortensen, Preben Bo, MacArthur, Daniel, Daly, Mark J., Sullivan, Patrick F., Locke, Adam E., Palotie, Aarno, Børglum, Anders D., Kathiresan, Sekar, Neale, Benjamin M.

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Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study von Davis, James P, Huyghe, Jeroen R, Locke, Adam E, Jackson, Anne U, Sim, Xueling, Stringham, Heather M, Teslovich, Tanya M, Welch, Ryan P, Fuchsberger, Christian, Narisu, Narisu, Chines, Peter S, Kangas, Antti J, Soininen, Pasi, Ala-Korpela, Mika, Kuusisto, Johanna, Collins, Francis S, Laakso, Markku, Boehnke, Michael, Mohlke, Karen L

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Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity von Akbari, Parsa, Gilani, Ankit, Sosina, Olukayode, Kosmicki, Jack A., Khrimian, Lori, Fang, Yi-Ya, Persaud, Trikaldarshi, Garcia, Victor, Sun, Dylan, Li, Alexander, Mbatchou, Joelle, Locke, Adam E., Benner, Christian, Verweij, Niek, Lin, Nan, Hossain, Sakib, Agostinucci, Kevin, Pascale, Jonathan, Dirice, Ercument, Dunn, Michael, Kraus, William E., Shah, Svati H., Chen, Yii-Der, Rotter, Jerome, Rader, Daniel J., Melander, Olle, Still, Christopher D., Mirshahi, Tooraj, Carey, David J., Berumen-Campos, Jaime, Kuri-Morales, Pablo, Alegre-Diaz, Jesus, Torres, Jason M., Emberson, Jonathan R., Collins, Rory, Balasubramanian, Suganthi, Hawes, Alicia, Jones, Marcus, Zambrowicz, Brian, Murphy, Andrew J., Paulding, Charles, Coppola, Giovanni, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Cantor, Michael, Kang, Hyun M., Abecasis, Goncalo R., Karalis, Katia, Economides, Aris N., Marchini, Jonathan, Yancopoulos, George D., Sleeman, Mark W., Altarejos, Judith, Della Gatta, Giusy, Tapia-Conyer, Roberto, Schwartzman, Michal L., Baras, Aris, Ferreira, Manuel A. R., Lotta, Luca A.

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Heterozygous variants of CLPB are a cause of severe congenital neutropenia von Warren, Julia T., Cupo, Ryan R., Wattanasirakul, Peeradol, Spencer, David H., Locke, Adam E., Makaryan, Vahagn, Bolyard, Audrey Anna, Kelley, Merideth L., Kingston, Natalie L., Shorter, James, Bellanné-Chantelot, Christine, Donadieu, Jean, Dale, David C., Link, Daniel C.

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Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes von Akbari, Parsa, Sosina, Olukayode A., Bovijn, Jonas, Landheer, Karl, Nielsen, Jonas B., Kim, Minhee, Aykul, Senem, De, Tanima, Haas, Mary E., Hindy, George, Lin, Nan, Dinsmore, Ian R., Luo, Jonathan Z., Hectors, Stefanie, Geraghty, Benjamin, Germino, Mary, Panagis, Lampros, Parasoglou, Prodromos, Walls, Johnathon R., Halasz, Gabor, Atwal, Gurinder S., Jones, Marcus, LeBlanc, Michelle G., Still, Christopher D., Carey, David J., Giontella, Alice, Orho-Melander, Marju, Berumen, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M., Emberson, Jonathan R., Collins, Rory, Rader, Daniel J., Zambrowicz, Brian, Murphy, Andrew J., Balasubramanian, Suganthi, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Cantor, Michael, Abecasis, Goncalo R., Ferreira, Manuel A. R., Sleeman, Mark W., Gusarova, Viktoria, Altarejos, Judith, Harris, Charles, Economides, Aris N., Idone, Vincent, Karalis, Katia, Della Gatta, Giusy, Mirshahi, Tooraj, Yancopoulos, George D., Melander, Olle, Marchini, Jonathan, Tapia-Conyer, Roberto, Locke, Adam E., Baras, Aris, Verweij, Niek, Lotta, Luca A.

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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia von Palmer, Duncan S., Howrigan, Daniel P., Chapman, Sinéad B., Adolfsson, Rolf, Bass, Nick, Blackwood, Douglas, Boks, Marco P. M., Chen, Chia-Yen, Churchhouse, Claire, Corvin, Aiden P., Craddock, Nicholas, Curtis, David, Di Florio, Arianna, Dickerson, Faith, Freimer, Nelson B., Goes, Fernando S., Jia, Xiaoming, Jones, Ian, Jones, Lisa, Jonsson, Lina, Kahn, Rene S., Landén, Mikael, Locke, Adam E., McIntosh, Andrew M., McQuillin, Andrew, Morris, Derek W., O’Donovan, Michael C., Ophoff, Roel A., Owen, Michael J., Pedersen, Nancy L., Posthuma, Danielle, Reif, Andreas, Risch, Neil, Schaefer, Catherine, Scott, Laura, Singh, Tarjinder, Smoller, Jordan W., Solomonson, Matthew, Clair, David St, Stahl, Eli A., Vreeker, Annabel, Walters, James T. R., Wang, Weiqing, Watts, Nicholas A., Yolken, Robert, Zandi, Peter P., Neale, Benjamin M.

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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals von Kosmicki, Jack A., Horowitz, Julie E., Banerjee, Nilanjana, Lanche, Rouel, Marcketta, Anthony, Maxwell, Evan, Bai, Xiaodong, Sun, Dylan, Backman, Joshua D., Sharma, Deepika, Kury, Fabricio S.P., Kang, Hyun M., O’Dushlaine, Colm, Yadav, Ashish, Mansfield, Adam J., Li, Alexander H., Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Locke, Adam E., Khalid, Shareef, O’Keeffe, Sean, Mbatchou, Joelle, Chazara, Olympe, Huang, Yunfeng, Kvikstad, Erika, O’Neill, Amanda, Nioi, Paul, Parker, Meg M., Petrovski, Slavé, Runz, Heiko, Szustakowski, Joseph D., Wang, Quanli, Wong, Emily, Cordova-Palomera, Aldo, Smith, Erin N., Szalma, Sandor, Zheng, Xiuwen, Esmaeeli, Sahar, Davis, Justin W., Lai, Yi-Pin, Chen, Xing, Justice, Anne E., Leader, Joseph B., Mirshahi, Tooraj, Carey, David J., Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Rader, Daniel J., Povysil, Gundula, Goldstein, David B., Kiryluk, Krzysztof, Pairo-Castineira, Erola, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Meynert, Alison, Kousathanas, Athanasios, Moutsianas, Loukas, Tenesa, Albert, Caulfield, Mark, Scott, Richard, Wilson, James F., Baillie, J. Kenneth, Butler-Laporte, Guillaume, Nakanishi, Tomoko, Lathrop, Mark, Richards, J. Brent, Jones, Marcus, Balasubramanian, Suganthi, Salerno, William, Shuldiner, Alan R., Marchini, Jonathan, Overton, John D., Habegger, Lukas, Cantor, Michael N., Reid, Jeffrey G., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A.R.

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A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation von Vujkovic, Marijana, Ramdas, Shweta, Lorenz, Kim M., Guo, Xiuqing, Darlay, Rebecca, Cordell, Heather J., He, Jing, Gindin, Yevgeniy, Chung, Chuhan, Myers, Robert P., Schneider, Carolin V., Park, Joseph, Lee, Kyung Min, Serper, Marina, Carr, Rotonya M., Kaplan, David E., Haas, Mary E., MacLean, Matthew T., Witschey, Walter R., Zhu, Xiang, Tcheandjieu, Catherine, Kember, Rachel L., Kranzler, Henry R., Verma, Anurag, Giri, Ayush, Klarin, Derek M., Sun, Yan V., Huang, Jie, Huffman, Jennifer E., Creasy, Kate Townsend, Hand, Nicholas J., Liu, Ching-Ti, Long, Michelle T., Yao, Jie, Budoff, Matthew, Tan, Jingyi, Li, Xiaohui, Lin, Henry J., Chen, Yii-Der Ida, Taylor, Kent D., Chang, Ruey-Kang, Krauss, Ronald M., Vilarinho, Silvia, Brancale, Joseph, Nielsen, Jonas B., Locke, Adam E., Jones, Marcus B., Verweij, Niek, Baras, Aris, Reddy, K. Rajender, Neuschwander-Tetri, Brent A., Schwimmer, Jeffrey B., Sanyal, Arun J., Chalasani, Naga, Ryan, Kathleen A., Mitchell, Braxton D., Gill, Dipender, Wells, Andrew D., Manduchi, Elisabetta, Saiman, Yedidya, Mahmud, Nadim, Miller, Donald R., Reaven, Peter D., Phillips, Lawrence S., Muralidhar, Sumitra, DuVall, Scott L., Lee, Jennifer S., Assimes, Themistocles L., Pyarajan, Saiju, Cho, Kelly, Edwards, Todd L., Damrauer, Scott M., Wilson, Peter W., Gaziano, J. Michael, O’Donnell, Christopher J., Khera, Amit V., Grant, Struan F. A., Brown, Christopher D., Tsao, Philip S., Saleheen, Danish, Lotta, Luca A., Bastarache, Lisa, Anstee, Quentin M., Daly, Ann K., Meigs, James B., Rotter, Jerome I., Lynch, Julie A., Rader, Daniel J., Voight, Benjamin F., Chang, Kyong-Mi

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An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects von ACKERMAN, Christine, LOCKE, Adam E, REEVES, Roger H, SHERMAN, Stephanie L, MASLEN, Cheryl L, FEINGOLD, Eleanor, RESHEY, Benjamin, ESPANA, Karina, THUSBERG, Janita, MOONEY, Sean, BEAN, Lora J. H, DOOLEY, Kenneth J, CUA, Clifford L

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Quality control and conduct of genome-wide association meta-analyses von Winkler, Thomas W, Day, Felix R, Croteau-Chonka, Damien C, Wood, Andrew R, Locke, Adam E, Mägi, Reedik, Ferreira, Teresa, Fall, Tove, Graff, Mariaelisa, Justice, Anne E, Luan, Jian'an, Gustafsson, Stefan, Randall, Joshua C, Vedantam, Sailaja, Workalemahu, Tsegaselassie, Kilpeläinen, Tuomas O, Scherag, André, Esko, Tonu, Kutalik, Zoltán, Heid, Iris M, Loos, Ruth J F

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Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk von Yin, Xianyong, Bose, Debraj, Kwon, Annie, Hanks, Sarah C., Jackson, Anne U., Stringham, Heather M., Welch, Ryan, Oravilahti, Anniina, Fernandes Silva, Lilian, Locke, Adam E., Fuchsberger, Christian, Service, Susan K., Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Morrison, Jean, Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Collins, Francis S., Mohlke, Karen L., Scott, Laura J., Fauman, Eric B., Burant, Charles, Boehnke, Michael, Laakso, Markku, Wen, Xiaoquan

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