Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., Reid, Jeffrey G.
Published in Nature genetics (01.07.2021)
Published in Nature genetics (01.07.2021)
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Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
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.
Published in Nature genetics (01.04.2022)
Published in Nature genetics (01.04.2022)
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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
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.
Published in Nature genetics (01.03.2022)
Published in Nature genetics (01.03.2022)
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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
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.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Genotyping, sequencing and analysis of 140,000 adults from Mexico City
Ziyatdinov, Andrey, Torres, Jason, Alegre-Díaz, Jesús, Backman, Joshua, Mbatchou, Joelle, Turner, Michael, Gaynor, Sheila M., Joseph, Tyler, Zou, Yuxin, Liu, Daren, Wade, Rachel, Staples, Jeffrey, Panea, Razvan, Popov, Alex, Bai, Xiaodong, Balasubramanian, Suganthi, Habegger, Lukas, Lanche, Rouel, Lopez, Alex, Maxwell, Evan, Jones, Marcus, García-Ortiz, Humberto, Ramirez-Reyes, Raul, Santacruz-Benítez, Rogelio, Nag, Abhishek, Smith, Katherine R., Damask, Amy, Lin, Nan, Paulding, Charles, Reppell, Mark, Zöllner, Sebastian, Jorgenson, Eric, Salerno, William, Petrovski, Slavé, Overton, John, Reid, Jeffrey, Thornton, Timothy A., Abecasis, Gonçalo, Berumen, Jaime, Orozco-Orozco, Lorena, Collins, Rory, Baras, Aris, Hill, Michael R., Emberson, Jonathan R., Marchini, Jonathan, Kuri-Morales, Pablo, Tapia-Conyer, Roberto
Published in Nature (London) (26.10.2023)
Published in Nature (London) (26.10.2023)
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High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
Tcheandjieu, Catherine, Xiao, Ke, Tejeda, Helio, Lynch, Julie A., Ruotsalainen, Sanni, Bellomo, Tiffany, Palnati, Madhuri, Judy, Renae, Klarin, Derek, Kember, Rachel L., Verma, Shefali, Palotie, Aarno, Daly, Mark, Ritchie, Marylyn, Rader, Daniel J., Rivas, Manuel A., Assimes, Themistocles, Tsao, Philip, Damrauer, Scott, Priest, James R.
Published in Nature genetics (01.06.2022)
Published in Nature genetics (01.06.2022)
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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms
Ward, Lucas D., Tu, Ho-Chou, Quenneville, Chelsea B., Tsour, Shira, Flynn-Carroll, Alexander O., Parker, Margaret M., Deaton, Aimee M., Haslett, Patrick A. J., Lotta, Luca A., Verweij, Niek, Ferreira, Manuel A. R., Baras, Aris, Hinkle, Gregory, Nioi, Paul
Published in Nature communications (27.07.2021)
Published in Nature communications (27.07.2021)
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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
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
Published in Scientific reports (03.11.2021)
Published in Scientific reports (03.11.2021)
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Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection
Zhang, Chao, Verma, Anurag, Feng, Yuanqing, Melo, Marcelo C R, McQuillan, Michael, Hansen, Matthew, Lucas, Anastasia, Park, Joseph, Ranciaro, Alessia, Thompson, Simon, Rubel, Meagan A, Campbell, Michael C, Beggs, William, Hirbo, Jibril, Wata Mpoloka, Sununguko, George Mokone, Gaonyadiwe, Nyambo, Thomas, Wolde Meskel, Dawit, Belay, Gurja, Fokunang, Charles, Njamnshi, Alfred K, Omar, Sabah A, Williams, Scott M, Rader, Daniel J, Ritchie, Marylyn D, de la Fuente-Nunez, Cesar, Sirugo, Giorgio, Tishkoff, Sarah A
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2022)
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Journal Article
Genetic risk factors for COVID-19 and influenza are largely distinct
Kosmicki, Jack A., Marcketta, Anthony, Sharma, Deepika, Di Gioia, Silvio Alessandro, Batista, Samantha, Yang, Xiao-Man, Tzoneva, Gannie, Martinez, Hector, Sidore, Carlo, Kessler, Michael D., Horowitz, Julie E., Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Leader, Joseph B., Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Baltzell, Asher, Girshick, Ahna R., McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Reid, Jeffrey G., Economides, Aris, Kyratsous, Christos, Karalis, Katia, Baum, Alina, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Ball, Catherine A., Siminovitch, Katherine, Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A. R.
Published in Nature genetics (01.08.2024)
Published in Nature genetics (01.08.2024)
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Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk
Powers, Jacquelyn, Wachtel, Heather, Trujillo, Erica, Desai, Heena, Hausler, Ryan, Conway, Laura, Wubbenhorst, Bradley, Domchek, Susan M, Nathanson, Katherine L, Maxwell, Kara N
Published in Genetics in medicine (19.10.2024)
Published in Genetics in medicine (19.10.2024)
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Journal Article
Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study
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.
Published in Journal of thrombosis and haemostasis (01.06.2022)
Published in Journal of thrombosis and haemostasis (01.06.2022)
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Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank
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.
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
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, Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Beechert, Christina, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, De, Tanima, Deubler, Andrew, Economides, Aris, Eom, Gisu, Ferreira, Manuel A R, sythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B, Karalis, Katia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lattari, Michael, Li, Dadong, Lopez, Alexander, Lotta, Luca A, Manoochehri, Kia, Mansfield, Adam J, Maxwell, Evan K, Mighty, Jason, Mitnaul, Lyndon J, Nafde, Mona, Nielsen, Jonas, O'Keeffe, Sean, Orelus, Max, Overton, John D, Padilla, Maria Sotiropoulos, Panea, Razvan, Polanco, Tommy, Pradhan, Manasi, Rasool, Ayesha, Reid, Jeffrey G, Salerno, William, Schleicher, Thomas D, Shuldiner, Alan, Siminovitch, Katherine, Staples, Jeffrey C, Ulloa, Ricardo H, Verweij, Niek, Widom, Louis, Wolf, Sarah E
Published in Nature genetics (01.03.2022)
Published in Nature genetics (01.03.2022)
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Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies
Cavazos, Taylor B, Kachuri, Linda, Graff, Rebecca E, Nierenberg, Jovia L, Thai, Khanh K, Alexeeff, Stacey, Van Den Eeden, Stephen, Corley, Douglas A, Kushi, Lawrence H, Hoffmann, Thomas J, Ziv, Elad, Habel, Laurel A, Jorgenson, Eric, Sakoda, Lori C, Witte, John S
Published in BMC medicine (06.10.2022)
Published in BMC medicine (06.10.2022)
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Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study
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
Published in Journal of the American Heart Association (15.02.2022)
Published in Journal of the American Heart Association (15.02.2022)
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Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions
Xiao, Brenda, Velez Edwards, Digna R, Lucas, Anastasia, Drivas, Theodore, Gray, Kathryn, Keating, Brendan, Weng, Chunhua, Jarvik, Gail P, Hakonarson, Hakon, Kottyan, Leah, Elhadad, Noemie, Wei, Wei-Qi, Luo, Yuan, Kim, Dokyoon, Ritchie, Marylyn, Verma, Shefali Setia
Published in Journal of the American Heart Association (07.03.2023)
Published in Journal of the American Heart Association (07.03.2023)
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Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study
Published in Circulation. Genomic and precision medicine
(01.10.2021)
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Journal Article
Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers
Wineland, Dylane, Le, Anh N, Hausler, Ryan, Kelly, Gregory, Barrett, Emanuel, Desai, Heena, Wubbenhorst, Bradley, Pluta, John, Bastian, Paul, Symecko, Heather, D'Andrea, Kurt, Doucette, Abigail, Gabriel, Peter, Reiss, Kim A, Nayak, Anupma, Feldman, Michael, Domchek, Susan M, Nathanson, Katherine L, Maxwell, Kara N
Published in JCO precision oncology (01.08.2023)
Published in JCO precision oncology (01.08.2023)
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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
Praveen, Kavita, Dobbyn, Lee, Gurski, Lauren, Ayer, Ariane H., Staples, Jeffrey, Mishra, Shawn, Bai, Yu, Kaufman, Alexandra, Moscati, Arden, Benner, Christian, Chen, Esteban, Chen, Siying, Popov, Alexander, Smith, Janell, Melander, Olle, Jones, Marcus B., Marchini, Jonathan, Balasubramanian, Suganthi, Zambrowicz, Brian, Drummond, Meghan C., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A., Stahl, Eli A., Coppola, Giovanni
Published in Communications biology (03.06.2022)
Published in Communications biology (03.06.2022)
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