Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction von Sun, Jiangming, Wang, Yunpeng, Folkersen, Lasse, Borné, Yan, Amlien, Inge, Buil, Alfonso, Orho-Melander, Marju, Børglum, Anders D., Hougaard, David M., Melander, Olle, Engström, Gunnar, Werge, Thomas, Lage, Kasper

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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank von Jurgens, Sean J., Choi, Seung Hoan, Morrill, Valerie N., Chaffin, Mark, Pirruccello, James P., Halford, Jennifer L., Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W., Oetjens, Matthew T., Lagerman, Braxton, vanMaanen, David P., Aragam, Krishna G., Lunetta, Kathryn L., Haggerty, Christopher M., Lubitz, Steven A., Ellinor, Patrick T.

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Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis von Vujkovic, Marijana, Keaton, Jacob M., Lynch, Julie A., Miller, Donald R., Zhou, Jin, Tcheandjieu, Catherine, Huffman, Jennifer E., Assimes, Themistocles L., Lorenz, Kimberly, Zhu, Xiang, Hilliard, Austin T., Judy, Renae L., Huang, Jie, Lee, Kyung M., Klarin, Derek, Pyarajan, Saiju, Danesh, John, Melander, Olle, Rasheed, Asif, Mallick, Nadeem H., Hameed, Shahid, Qureshi, Irshad H., Afzal, Muhammad Naeem, Malik, Uzma, Jalal, Anjum, Abbas, Shahid, Sheng, Xin, Gao, Long, Kaestner, Klaus H., Susztak, Katalin, Sun, Yan V., DuVall, Scott L., Cho, Kelly, Lee, Jennifer S., Gaziano, J. Michael, Phillips, Lawrence S., Meigs, James B., Reaven, Peter D., Wilson, Peter W., Edwards, Todd L., Rader, Daniel J., Damrauer, Scott M., O’Donnell, Christopher J., Tsao, Philip S., Chang, Kyong-Mi, Voight, Benjamin F., Saleheen, Danish

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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure von Henry, Albert, Roselli, Carolina, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K., Morley, Michael P., Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Backman, Joshua D., Biggs, Mary L., Brandimarto, Jeffrey, Buckbinder, Leonard, Carey, David J., Chasman, Daniel I., Chen, Xu, Chung, Jonathan, Cook, James P., Delgado, Graciela E., Denaxas, Spiros, Dörr, Marcus, Dudley, Samuel C., Esko, Tõnu, Finan, Chris, Gottdiener, John S., Gross, Stefan, Guðbjartsson, Daníel F., Gutmann, Rebecca, Haggerty, Christopher M., Hyde, Craig L., Ingelsson, Erik, Jukema, J. Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E., Køber, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lotta, Luca A., Luan, Jian’an, März, Winfried, Melander, Olle, Mordi, Ify R., Morgan, Thomas, Morris, Andrew D., Morris, Andrew P., Morrison, Alanna C., Nelson, Christopher P., Niessner, Alexander, Niiranen, Teemu, O’Donoghue, Michelle L., Owens, Anjali T., Parry, Helen M., Perola, Markus, Rice, Kenneth M., Ridker, Paul M., Rotter, Jerome I., Salo, Perttu, Salomaa, Veikko, Smelser, Diane T., Stender, Steen, Stott, David J., Tammesoo, Mari-Liis, Taylor, Kent D., Teder-Laving, Maris, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G., Veluchamy, Abirami, Völker, Uwe, Voors, Adriaan A., Wareham, Nicholas J., Waterworth, Dawn, Weiss, Raul, Wiggins, Kerri L., Yerges-Armstrong, Laura M., Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, McMurray, John J. V., Yang, Jian, Visscher, Peter M., Malarstig, Anders, Holm, Hilma, Sattar, Naveed, Holmes, Michael V., Cappola, Thomas P., Hingorani, Aroon D., Kuchenbaecker, Karoline, Ellinor, Patrick T., Smith, J. Gustav, Vasan, Ramachandran S., Swerdlow, Daniel I., Lumbers, R. Thomas

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Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes von Mansour Aly, Dina, Dwivedi, Om Prakash, Prasad, Rashmi B., Käräjämäki, Annemari, Hjort, Rebecka, Thangam, Manonanthini, Åkerlund, Mikael, Mahajan, Anubha, Udler, Miriam S., Florez, Jose C., McCarthy, Mark I., Brosnan, Julia, Melander, Olle, Carlsson, Sofia, Hansson, Ola, Tuomi, Tiinamaija, Groop, Leif, Ahlqvist, Emma

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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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ALG9 Mutation Carriers Develop Kidney and Liver Cysts von Besse, Whitney, Chang, Alex R, Luo, Jonathan Z, Triffo, William J, Moore, Bryn S, Gulati, Ashima, Hartzel, Dustin N, Mane, Shrikant, Torres, Vicente E, Somlo, Stefan, Mirshahi, Tooraj

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Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline von Li, Yong, Wuttke, Matthias, Winkler, Thomas W., Chai, Jin-Fang, Chu, Audrey Y., Cocca, Massimiliano, Feitosa, Mary F., Hoppmann, Anselm, Horn, Katrin, Li, Man, Nutile, Teresa, Tin, Adrienne, Tayo, Bamidele O., Bakker, Stephan J.L., Banas, Bernhard, Biggs, Mary L., Bottinger, Erwin P., Brenner, Hermann, Chalmers, John, Chee, Miao-Ling, Degenhardt, Frauke, Eckardt, Kai-Uwe, Ghanbari, Mohsen, Gieger, Christian, Hofer, Edith, Xian Foo, Valencia Hui, Hutri-Kähönen, Nina, Ikram, M. Arfan, Kähönen, Mika, Khor, Chiea-Chuen, Koenig, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kühnel, Brigitte, Lange, Leslie A., Franke, Lude, van der Harst, Pim, Navis, Gerjan, Snieder, Harold, Swertz, Morris, Wolffenbuttel, Bruce H.R., Wijmenga, Cisca, Abecasis, Goncalo, Baras, Aris, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Beechert, Christina, Forsythe, Caitlin, Gu, Zhenhua, Lattari, Michael, Padilla, Maria Sotiropoulos, Toledo, Karina, Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Barnard, Leland, Blumenfeld, Andrew, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Mitnaul, Lyndon J., Loos, Ruth J.F., Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Milaneschi, Yuri, Mishra, Pashupati P., Mychaleckyj, Josyf C., Nikus, Kjell, Nolte, Ilja M., O’Donoghue, Michelle L., Pendergrass, Sarah A., Penninx, Brenda W.J.H., Preuss, Michael H., Psaty, Bruce M., Raitakari, Olli T., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Rosenkranz, Alexander R., Rossing, Peter, Sedaghat, Sanaz, Taylor, Kent D., Tremblay, Johanne, Völker, Uwe, Wallentin, Lars, Waterworth, Dawn M., White, Harvey D., Wilson, James G., Wong, Tien-Yin, Snieder, Harold, Böger, Carsten A., Köttgen, Anna, Heid, Iris M.

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MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk von Surakka, Ida, Fritsche, Lars G., Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben, Nielsen, Jonas B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn O., Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel, Stefansson, Kari, Baras, Aris, Abecasis, Goncalo R., Hveem, Kristian, Willer, Cristen J.

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Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals von Kember, Rachel L., Merikangas, Alison K., Verma, Shefali S., Verma, Anurag, Judy, Renae, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Yadav, Ashish, Jones, Marcus B., Mitnaul, Lyndon J., Damrauer, Scott M., Ritchie, Marylyn D., Rader, Daniel J., Bućan, Maja

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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes von Deaton, Aimee M., Parker, Margaret M., Ward, Lucas D., Flynn-Carroll, Alexander O., BonDurant, Lucas, Hinkle, Gregory, Akbari, Parsa, Lotta, Luca A., Baras, Aris, Nioi, Paul

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Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study von Sun, Jiangming, Borné, Yan, Edsfeldt, Andreas, Wang, Yunpeng, Pan, Mengyu, Melander, Olle, Engström, Gunnar, Gonçalves, Isabel

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A large meta-analysis identifies genes associated with anterior uveitis von Gelfman, Sahar, Moscati, Arden, Huergo, Santiago Mendez, Wang, Rujin, Rajagopal, Veera, Parikshak, Neelroop, Pounraja, Vijay Kumar, Chen, Esteban, Leblanc, Michelle, Hazlewood, Ralph, Freudenberg, Jan, Cooper, Blerta, Ligocki, Ann J., Miller, Charles G., Van Zyl, Tavé, Weyne, Jonathan, Romano, Carmelo, Sagdullaev, Botir, Melander, Olle, Baras, Aris, Stahl, Eli A., Coppola, Giovanni

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NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke von Rodriguez-Flores, Juan Lorenzo, Khalid, Shareef, Parikshak, Neelroop, Rasheed, Asif, Ye, Bin, Kapoor, Manav, Backman, Joshua, Sepehrband, Farshid, Gioia, Silvio Alessandro Di, Gelfman, Sahar, De, Tanima, Banerjee, Nilanjana, Sharma, Deepika, Martinez, Hector, Castaneda, Sofia, D’Ambrosio, David, Zhang, Xingmin A., Xun, Pengcheng, Tsai, Ellen, Tsai, I-Chun, Khan, Maleeha Zaman, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Mahmood, Khalid, Salam, Tanvir Us, Hussain, Muhammad, Iqbal, Javed, Aslam, Faizan, Cantor, Michael N., Tzoneva, Gannie, Overton, John, Marchini, Jonathan, Reid, Jeffrey G., Baras, Aris, Verweij, Niek, Lotta, Luca A., Coppola, Giovanni, Karalis, Katia, Economides, Aris, Fazio, Sergio, Liedtke, Wolfgang, Danesh, John, Kamal, Ayeesha, Frossard, Philippe, Coleman, Thomas, Shuldiner, Alan R., Saleheen, Danish

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Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study von Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, Mitnaul, Lyndon J.

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Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium von Wan, Xuesi, Perry, James, Zhang, Haichen, Jin, Feng, Ryan, Kathleen A, Van Hout, Cristopher, Reid, Jeffrey, Overton, John, Baras, Aris, Han, Zhe, Streeten, Elizabeth, Li, Yanbing, Mitchell, Braxton D, Shuldiner, Alan R, Fu, Mao

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Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank von Wang, Louise, Desai, Heena, Verma, Shefali S., Le, Anh, Hausler, Ryan, Verma, Anurag, Judy, Renae, Doucette, Abigail, Gabriel, Peter E., Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Blumenfeld, Andrew, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lotta, Luca A., Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Overton, John D., Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Pradhan, Manasi, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Nathanson, Katherine L., Damrauer, Scott M., Mowery, Danielle L., Ritchie, Marylyn D., Kember, Rachel L., Maxwell, Kara N.

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Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study von Manderstedt, Eric, Lind-Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J, Dahlbäck, Björn, Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A, Zöller, Bengt

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Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study... von Manderstedt, Eric, Lind‐Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, Mitnaul, Lyndon J.

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Severe Asthma Control Oscillometry von Jones, Marcus

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