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1. Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden

Author

Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bowes, Jonathan, Bryc, Katarzyna, Chaudhary, Ninad S., Coker, Daniella, Das, Sayantan, DelloRusso, Emily, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fontanillas, Pierre, Freyman, Will, Fuller, Zach, German, Chris, Granka, Julie M., Heilbron, Karl, Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Liang, Yanyu, Lin, Keng-Han, Llamas, Bianca A., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Saini, Shubham, Schumacher, Morgan, Selcer, Leah, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Bonham, Vence L., and Naik, Rakhi P.

Published
2024
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2. Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

Author

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 KE, 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, and Young, Alexander I

Subjects
Human Genome, Genetics, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Polymorphism, Single Nucleotide, 23andMe Research Team, Social Science Genetic Association Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57.

Published
2022

3. A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals

Author

Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fitch, Alison, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Granka, Julie M., Heilbron, Karl, Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Lin, Keng-Han, Llamas, Bianca A., Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tchakouté, Christophe Toukam, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Jennings, Mariela V., Martínez-Magaña, José Jaime, Courchesne-Krak, Natasia S., Cupertino, Renata B., Vilar-Ribó, Laura, Bianchi, Sevim B., Hatoum, Alexander S., Atkinson, Elizabeth G., Giusti-Rodriguez, Paola, Montalvo-Ortiz, Janitza L., Gelernter, Joel, Artigas, María Soler, Edenberg, Howard J., Palmer, Abraham A., and Sanchez-Roige, Sandra

Published
2024
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4. MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups

Author

Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Coker, Daniella, Cuellar Partida, Gabriel, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fitch, Alison, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Granka, Julie M., Heilbron, Karl, Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Lin, Keng-Han, Llamas, Bianca A., Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., Noblin, Elizabeth S., O’Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tchakouté, Christophe Toukam, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Jin, Jin, Zhan, Jianan, Zhang, Jingning, Zhao, Ruzhang, Buyske, Steven, Gignoux, Christopher, Haiman, Christopher, Kenny, Eimear E., Kooperberg, Charles, North, Kari, Koelsch, Bertram L., Wojcik, Genevieve, Zhang, Haoyu, and Chatterjee, Nilanjan

Published
2024
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5. Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders

Author

Yu, Dongmei, Sul, Jae Hoon, Tsetsos, Fotis, Nawaz, Muhammad S., Huang, Alden Y., Zelaya, Ivette, Illmann, Cornelia, Osiecki, Lisa, Darrow, Sabrina M., Hirschtritt, Matthew E., Greenberg, Erica, Muller-Vahl, Kirsten R., Stuhrmann, Manfred, Dion, Yves, Rouleau, Guy, Aschauer, Harald, Stamenkovic, Mara, Schlögelhofer, Monika, Sandor, Paul, Barr, Cathy L., Grados, Marco, Singer, Harvey S., Nöthen, Markus M., Hebebrand, Johannes, Hinney, Anke, King, Robert A., Fernandez, Thomas V., Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Budman, Cathy L., Rizzo, Renata, Lyon, Gholson J., McMahon, William M., Batterson, James R., Cath, Danielle C., Malaty, Irene A., Okun, Michael S., Berlin, Cheston, Woods, Douglas W., Lee, Paul C., Jankovic, Joseph, Robertson, Mary M., Gilbert, Donald L., Brown, Lawrence W., Coffey, Barbara J., Dietrich, Andrea, Hoekstra, Pieter J., Kuperman, Samuel, Zinner, Samuel H., Luðvigsson, Pétur, Sæmundsen, Evald, Thorarensen, Ólafur, Atzmon, Gil, Barzilai, Nir, Wagner, Michael, Moessner, Rainald, Ophoff, Roel, Pato, Carlos N., Pato, Michele T., Knowles, James A., Roffman, Joshua L., Smoller, Jordan W., Buckner, Randy L., Willsey, Jeremy A., Tischfield, Jay A., Heiman, Gary A., Stefansson, Hreinn, Stefansson, Kári, Posthuma, Danielle, Cox, Nancy J., Pauls, David L., Freimer, Nelson B., Neale, Benjamin M., Davis, Lea K., Paschou, Peristera, Coppola, Giovanni, Mathews, Carol A., Scharf, Jeremiah M., Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tung, Joyce Y., Vacic, Vladimir, Wang, Xin, Strom, Nora I., Halvorsen, Matthew W., Grove, Jakob, Ásbjörnsdóttir, Bergrún, Luðvígsson, Pétur, de Schipper, Elles, Bäckmann, Julia, Andrén, Per, Tian, Chao, Als, Thomas Damm, Nissen, Judith Becker, Meier, Sandra M., Bybjerg-Grauholm, Jonas, Hougaard, David M., Werge, Thomas, Børglum, Anders D., Hinds, David A., Rück, Christian, Mataix-Cols, David, Stefánsson, Hreinn, Stefansson, Kari, Crowley, James J., and Mattheisen, Manuel

Published
2024
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6. Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma

Author

Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Cuellar Partida, Gabriel, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Kleinman, Aaron, Kukar, Katelyn, Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Liyanage, Upekha E., MacGregor, Stuart, Bishop, D. Timothy, Shi, Jianxin, An, Jiyuan, Ong, Jue Sheng, Han, Xikun, Scolyer, Richard A., Martin, Nicholas G., Medland, Sarah E., Byrne, Enda M., Green, Adèle C., Saw, Robyn P.M., Thompson, John F., Stretch, Jonathan, Spillane, Andrew, Jiang, Yunxuan, Tian, Chao, Gordon, Scott G., Duffy, David L., Olsen, Catherine M., Whiteman, David C., Long, Georgina V., Iles, Mark M., Landi, Maria Teresa, and Law, Matthew H.

Published
2022
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7. Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

Author

Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Kukar, Katelyn, Lane, Vanessa A., Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O’Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tian, Chao, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Ashenhurst, James R., Nhan, Hoang, Wu, Shirley, and Stoller, James K.

Published
2022
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10. Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy

Author

Agee, Michelle, Aslibekyan, Stella, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A.M., O’Connell, Jared, Petrakovitz, Aaron A., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shastri, Anjali J., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, Zare, Amir S., Krebs, Kristi, Bovijn, Jonas, Zheng, Neil, Lepamets, Maarja, Censin, Jenny C., Jürgenson, Tuuli, Särg, Dage, Abner, Erik, Laisk, Triin, Luo, Yang, Skotte, Line, Geller, Frank, Feenstra, Bjarke, Wang, Wei, Auton, Adam, Raychaudhuri, Soumya, Esko, Tõnu, Metspalu, Andres, Laur, Sven, Roden, Dan M., Wei, Wei-Qi, Holmes, Michael V., Lindgren, Cecilia M., Phillips, Elizabeth J., Mägi, Reedik, Milani, Lili, and Fadista, João

Published
2020
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11. MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups

Author

Jin, Jin, primary, Zhan, Jianan, additional, Zhang, Jingning, additional, Zhao, Ruzhang, additional, O’Connell, Jared, additional, Jiang, Yunxuan, additional, Aslibekyan, Stella, additional, Auton, Adam, additional, Babalola, Elizabeth, additional, Bell, Robert K., additional, Bielenberg, Jessica, additional, Bryc, Katarzyna, additional, Bullis, Emily, additional, Coker, Daniella, additional, Cuellar Partida, Gabriel, additional, Dhamija, Devika, additional, Das, Sayantan, additional, Elson, Sarah L., additional, Eriksson, Nicholas, additional, Filshtein, Teresa, additional, Fitch, Alison, additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Freyman, Will, additional, Granka, Julie M., additional, Heilbron, Karl, additional, Hernandez, Alejandro, additional, Hicks, Barry, additional, Hinds, David A., additional, Jewett, Ethan M., additional, Kukar, Katelyn, additional, Kwong, Alan, additional, Lin, Keng-Han, additional, Llamas, Bianca A., additional, Lowe, Maya, additional, McCreight, Jey C., additional, McIntyre, Matthew H., additional, Micheletti, Steven J., additional, Moreno, Meghan E., additional, Nandakumar, Priyanka, additional, Nguyen, Dominique T., additional, Noblin, Elizabeth S., additional, Petrakovitz, Aaron A., additional, Poznik, G. David, additional, Reynoso, Alexandra, additional, Schumacher, Morgan, additional, Shastri, Anjali J., additional, Shelton, Janie F., additional, Shi, Jingchunzi, additional, Shringarpure, Suyash, additional, Su, Qiaojuan Jane, additional, Tat, Susana A., additional, Tchakouté, Christophe Toukam, additional, Tran, Vinh, additional, Tung, Joyce Y., additional, Wang, Xin, additional, Wang, Wei, additional, Weldon, Catherine H., additional, Wilton, Peter, additional, Wong, Corinna D., additional, Buyske, Steven, additional, Gignoux, Christopher, additional, Haiman, Christopher, additional, Kenny, Eimear E., additional, Kooperberg, Charles, additional, North, Kari, additional, Koelsch, Bertram L., additional, Wojcik, Genevieve, additional, Zhang, Haoyu, additional, and Chatterjee, Nilanjan, additional

Published
2024
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12. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Author

Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blauwendraat, Cornelis, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Chelban, Viorica, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Faghri, Faraz, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Iwaki, Hirotaka, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Krohn, Lynne, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Martínez Torres, Irene, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Nalls, Mike A, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizig, Mie, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Rouleau, Guy A, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Van Keuren-Jensen, Kendall, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., von Coelln, Rainer, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao, Vallerga, Costanza L, Heilbron, Karl, Chang, Diana, Tan, Manuela, Young, Emily, Pihlstrøm, Lasse, Leonard, Hampton, Botia, Juan A, Jankovic, Joseph, Shulman, Lisa M, Sutherland, Margaret, Tienari, Pentti, Andreassen, Ole A, Bangale, Tushar, Hinds, David A, Hardy, John A, Visscher, Peter M, and Graham, Robert R

Published
2019
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13. Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Author

Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Lin, Keng-Han, McCreight, Jennifer C., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wang, Xin, Nakka, Priyanka, Pattillo Smith, Samuel, O’Donnell-Luria, Anne H., McManus, Kimberly F., Mountain, Joanna L., Ramachandran, Sohini, and Sathirapongsasuti, J. Fah

Published
2019
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14. Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden

Author

Lin, Keng-Han, Granka, Julie M., Shastri, Anjali J., Bonham, Vence L., Naik, Rakhi P., Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bowes, Jonathan, Bryc, Katarzyna, Chaudhary, Ninad S., Coker, Daniella, Das, Sayantan, DelloRusso, Emily, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fontanillas, Pierre, Freyman, Will, Fuller, Zach, German, Chris, Granka, Julie M., Heilbron, Karl, Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Liang, Yanyu, Lin, Keng-Han, Llamas, Bianca A., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Saini, Shubham, Schumacher, Morgan, Selcer, Leah, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, and Wong, Corinna D.

Abstract

•The risk of VTE was increased among individuals with SCT, independent of genetic ancestry, and this risk was lower than heterozygous FVL.•The risk of PE in SCT is significantly higher than the risk of isolated DVT; this pattern suggests a unique mechanism of thrombosis in SCT.

Published
2024
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15. Chemical Cross-Linking of a Variety of Green Fluorescent Proteins as Förster Resonance Energy Transfer Donors for Yukon Orange Fluorescent Protein: A Project-Based Undergraduate Laboratory Experience

Author

Marchioretto, Mira K., Horton, Jacqueline T., Berstler, Calvin A., Humphries, Joseph B., Koloditch, Isaac J., Voss, Samuel D., de La Harpe, Kimberly, Hicks, Barry W., and Jefferies, Latisha R.

Abstract

Förster resonance energy transfer (FRET) is the basis for many techniques used in biomedical research. Due to its wide use in molecular sensing, FRET is commonly introduced in many biology, chemistry, and physics courses. While FRET is of great importance in the biophysical sciences, the complexity and difficulty of constructing FRET experiments has resulted in limited usage in undergraduate laboratory settings. Here, we present a practical undergraduate laboratory experiment for teaching FRET using a diverse set of green-emitting fluorescent proteins (FPs) as donors for a cross-linked Yukon orange FP. This laboratory experiment enables students to make the connection of basic lab procedures to real world applications and can be applied to molecular biology, biochemistry, physical chemistry, and biophysical laboratory courses.

Published
2018
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16. PLAY IT AGAIN!

Author

Hicks, Barry

Subjects
Music
Abstract

I was initially saddened that we would no longer receive a physical CD of music with each issue. After some time now with the digital downloads I must say I [...]

Published
2024

17. Identification of individuals by trait prediction using whole-genome sequencing data

Author

Lippert, Christoph, Sabatini, Riccardo, Maher, M. Cyrus, Kang, Eun Yong, Lee, Seunghak, Arikan, Okan, Harley, Alena, Bernal, Axel, Garst, Peter, Lavrenko, Victor, Yocum, Ken, Wong, Theodore, Zhu, Mingfu, Yang, Wen-Yun, Chang, Chris, Lu, Tim, Lee, Charlie W. H., Hicks, Barry, Ramakrishnan, Smriti, Tang, Haibao, Xie, Chao, Piper, Jason, Brewerton, Suzanne, Turpaz, Yaron, Telenti, Amalio, Roby, Rhonda K., Och, Franz J., and Venter, J. Craig

Published
2017

19. The history, ecology and potential control of the pine beauty moth, Panolis flammea (Lepidoptera: Noctuidae) in Scotland

Author

Hicks, Barry J.

Subjects
590
Abstract

The pine beauty moth, Panolis flammea, has been a serious pest of lodgepole pine in Scotland since 1976. It historically fed on native Scots pine but population levels of P. flammea on this host have not been high enough to cause tree mortality. This thesis reviews recent advances in the biology of the pest and documents control programmes targeted against the pest from 1976 to 2000. Practically uninterrupted population monitoring of the P. flammea occurred from 1977 to the present day in Scottish lodgepole pine plantations. While intervention with chemical spraying has occurred, there is an indication that the reductions observed in the unsprayed populations are the result of natural enemies. The compiled data suggested that populations of P. flammea have had a cyclic pattern over the monitoring period with outbreaks occurring at regular intervals of between 6 and 7 years. The amplitude of population cycles were large during the 1970s and 1980s, but have dampened in recent years. Natural enemies are believed to contribute to the cause of this trend. The population of P. flammea in Northern Scotland was severely affected by fungal disease during the summer of 1998. The fungi, Entomophaga aulicae, Batkoa major, Zoophthora sp., Nomuraea rileyi and Beauveria bassiana were recorded from P. flammea and infection of larvae by these fungi occurred in a density dependent fashion. The incidence of parasitism was different between the sites studied, however there was no difference in the parasitism between high and low density host populations. This is the first study to demonstrate that the diversity and impact of fungal pathogens affecting P. flammea is much greater now than in the past. Laboratory bioassays of the entomopathogenic fungus Beauveria bassiana against several life stages of the pine beauty moth P. flammea, showed that this fungus has the potential to be used as a biological control agent.

Published
2001

21. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia

Author

Doust, Catherine, Fontanillas, Pierre; https://orcid.org/0000-0002-8944-4454, Eising, Else; https://orcid.org/0000-0001-9819-1260, Gordon, Scott D; https://orcid.org/0000-0001-7623-328X, Wang, Zhengjun; https://orcid.org/0000-0003-2326-4167, Alagöz, Gökberk, Molz, Barbara; https://orcid.org/0000-0002-9300-761X, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K, Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L, Filshtein, Teresa, Fletez-Brant, Kipper, Freyman, Will, Gandhi, Pooja M, Heilbron, Karl, Hicks, Barry, Hinds, David A, Jewett, Ethan M, Jiang, Yunxuan, Kukar, Katelyn, Lin, Keng-Han, et al, Doust, Catherine, Fontanillas, Pierre; https://orcid.org/0000-0002-8944-4454, Eising, Else; https://orcid.org/0000-0001-9819-1260, Gordon, Scott D; https://orcid.org/0000-0001-7623-328X, Wang, Zhengjun; https://orcid.org/0000-0003-2326-4167, Alagöz, Gökberk, Molz, Barbara; https://orcid.org/0000-0002-9300-761X, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K, Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L, Filshtein, Teresa, Fletez-Brant, Kipper, Freyman, Will, Gandhi, Pooja M, Heilbron, Karl, Hicks, Barry, Hinds, David A, Jewett, Ethan M, Jiang, Yunxuan, Kukar, Katelyn, Lin, Keng-Han, and et al

Abstract

Correction to: Nature Genetics https://doi.org/10.1038/s41588-022-01192-y. Published online 20 October 2022. In the version of this article originally published, a paragraph was omitted in the Methods section, reading “Genomic control. Top SNPs are reported from the more conservative GWAS results adjusted for genomic control (Fig. 1, Extended Data Figs. 1–4, and Supplementary Tables 1, 2, 9 and 10), whereas downstream analyses (including gene-set analysis, enrichment and heritability partitioning, genetic correlations, polygenic prediction, candidate gene replication) are based on GWAS results without genomic control.” The paragraph has now been included in the HTML and PDF versions of the article.

Published
2023

23. Using a polygenic score in a family design to understand genetic influences on musicality

Author

Wesseldijk, Laura W., Abdellaoui, Abdel, Gordon, Reyna L., Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Faaborg, Anna, Fuller, Shirin T., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Jewett, Ethan M., Kukar, Katelyn, Lin, Keng-Han, Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Nandakumar, Priyanka, Noblin, Elizabeth S., O’Connell, Jared, Huang, Yunru, Petrakovitz, Aaron A., Lane, Vanessa, Petrakovitz, Aaron, Kim, Joanne S., Poznik, G. David, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Hernandez, Alejandro, Wong, Corinna, Tchakouté, Christophe Toukam, Ullén, Fredrik, Mosing, Miriam A., 23andMe Research Team, Adult Psychiatry, Social Psychology, IBBA, and Biological Psychology

Subjects
Sweden, Multifactorial Inheritance, SDG 16 - Peace, Multidisciplinary, SDG 16 - Peace, Justice and Strong Institutions, Twins, SDG 10 - Reduced Inequalities, Justice and Strong Institutions, Pitch Discrimination, Humans, Multifactorial Inheritance/genetics, Music, Twins/genetics
Abstract

To further our understanding of the genetics of musicality, we explored associations between a polygenic score for self-reported beat synchronization ability (PGSrhythm) and objectively measured rhythm discrimination, as well as other validated music skills and music-related traits. Using family data, we were able to further explore potential pathways of direct genetic, indirect genetic (through passive gene–environment correlation) and confounding effects (such as population structure and assortative mating). In 5648 Swedish twins, we found PGSrhythm to predict not only rhythm discrimination, but also melody and pitch discrimination (betas between 0.11 and 0.16, p p rhythm was not associated with control phenotypes not directly related to music. Associations did not deteriorate within families (N = 243), implying that indirect genetic or confounding effects did not inflate PGSrhythm effects. A correlation (r = 0.05, p rhythm, suggests gene–environment correlation. We conclude that the PGSrhythm captures individuals' general genetic musical propensity, affecting musical behavior more likely direct than through indirect or confounding effects.

Published
2022
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25. Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

Author

Eijsbouts, Chris, Zheng, Tenghao, Kennedy, Nicholas A., Bonfiglio, Ferdinando, Anderson, Carl A., Moutsianas, Loukas, Holliday, Joanne, Shi, Jingchunzi, Shringarpure, Suyash, Voda, Alexandru-Ioan, Farrugia, Gianrico, Franke, Andre, H��benthal, Matthias, Abecasis, Gon��alo, Zawistowski, Matthew, Skogholt, Anne Heidi, Ness-Jensen, Eivind, Hveem, Kristian, Esko, T��nu, Teder-Laving, Maris, Zhernakova, Alexandra, Camilleri, Michael, Boeckxstaens, Guy, Whorwell, Peter J., Spiller, Robin, McVean, Gil, D���Amato, Mauro, Jostins, Luke, Parkes, Miles, Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., Luff, Marie K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O���Connell, Jared, Petrakovitz, Aaron A., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shastri, Anjali J., Shelton, Janie F., Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, Zare, Amir S., Kashyap, Purna, Chang, Lin, Mayer, Emeran, Heitkemper, Margaret, Sayuk, Gregory S., Ringel-Kulka, Tamar, Ringel, Yehuda, Chey, William D., Eswaran, Shanti, Merchant, Juanita L., Shulman, Robert J., Bujanda, Luis, Garcia-Etxebarria, Koldo, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontus, Ohlsson, Bodil, Walter, Susanna, Faresj��, ��shild O., Simren, Magnus, Halfvarson, Jonas, Portincasa, Piero, Barbara, Giovanni, Usai-Satta, Paolo, Neri, Matteo, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Bellini, Massimo, Latiano, Anna, Houghton, Lesley, Jonkers, Daisy, Kurilshikov, Alexander, Weersma, Rinse K., Netea, Mihai, Tesarz, Jonas, Gauss, Annika, Goebel-Stengel, Miriam, Andresen, Viola, Frieling, Thomas, Pehl, Christian, Schaefert, Rainer, Niesler, Beate, Lieb, Wolfgang, Hanevik, Kurt, Langeland, Nina, Wensaas, Knut-Arne, Litleskare, Sverre, Gabrielsen, Maiken E., Thomas, Laurent, Thijs, Vincent, Lemmens, Robin, Van Oudenhove, Lukas, Wouters, Mira, Eijsbouts C., Zheng T., Kennedy N.A., Bonfiglio F., Anderson C.A., Moutsianas L., Holliday J., Shi J., Shringarpure S., Agee M., Aslibekyan S., Auton A., Bell R.K., Bryc K., Clark S.K., Elson S.L., Fletez-Brant K., Fontanillas P., Furlotte N.A., Gandhi P.M., Heilbron K., Hicks B., Hinds D.A., Huber K.E., Jewett E.M., Jiang Y., Kleinman A., Lin K.-H., Litterman N.K., Luff M.K., McCreight J.C., McIntyre M.H., McManus K.F., Mountain J.L., Mozaffari S.V., Nandakumar P., Noblin E.S., Northover C.A.M., O'Connell J., Petrakovitz A.A., Pitts S.J., Poznik G.D., Sathirapongsasuti J.F., Shastri A.J., Shelton J.F., Tian C., Tung J.Y., Tunney R.J., Vacic V., Wang X., Zare A.S., Voda A.-I., Kashyap P., Chang L., Mayer E., Heitkemper M., Sayuk G.S., Ringel-Kulka T., Ringel Y., Chey W.D., Eswaran S., Merchant J.L., Shulman R.J., Bujanda L., Garcia-Etxebarria K., Dlugosz A., Lindberg G., Schmidt P.T., Karling P., Ohlsson B., Walter S., Faresjo A.O., Simren M., Halfvarson J., Portincasa P., Barbara G., Usai-Satta P., Neri M., Nardone G., Cuomo R., Galeazzi F., Bellini M., Latiano A., Houghton L., Jonkers D., Kurilshikov A., Weersma R.K., Netea M., Tesarz J., Gauss A., Goebel-Stengel M., Andresen V., Frieling T., Pehl C., Schaefert R., Niesler B., Lieb W., Hanevik K., Langeland N., Wensaas K.-A., Litleskare S., Gabrielsen M.E., Thomas L., Thijs V., Lemmens R., Van Oudenhove L., Wouters M., Farrugia G., Franke A., Hubenthal M., Abecasis G., Zawistowski M., Skogholt A.H., Ness-Jensen E., Hveem K., Esko T., Teder-Laving M., Zhernakova A., Camilleri M., Boeckxstaens G., Whorwell P.J., Spiller R., McVean G., D'Amato M., Jostins L., Parkes M., Eijsbouts, Chris [0000-0001-5179-0653], Anderson, Carl A. [0000-0003-1719-7009], Moutsianas, Loukas [0000-0001-5453-345X], Holliday, Joanne [0000-0003-4568-7320], Shringarpure, Suyash [0000-0001-6464-2668], Voda, Alexandru-Ioan [0000-0003-2974-6992], Farrugia, Gianrico [0000-0003-3473-5235], Hübenthal, Matthias [0000-0002-5956-3006], Abecasis, Gonçalo [0000-0003-1509-1825], Zawistowski, Matthew [0000-0002-3005-083X], Ness-Jensen, Eivind [0000-0001-6005-0729], Teder-Laving, Maris [0000-0002-5872-1850], Camilleri, Michael [0000-0001-6472-7514], Whorwell, Peter J. [0000-0002-5220-8474], Spiller, Robin [0000-0001-6371-4500], McVean, Gil [0000-0002-5012-4162], D’Amato, Mauro [0000-0003-2743-5197], Jostins, Luke [0000-0002-2475-3969], Parkes, Miles [0000-0002-6467-0631], Apollo - University of Cambridge Repository, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Eijsbouts, C., Zheng, T., Kennedy, N. A., Bonfiglio, F., Anderson, C. A., Moutsianas, L., Holliday, J., Shi, J., Shringarpure, S., Agee, M., Aslibekyan, S., Auton, A., Bell, R. K., Bryc, K., Clark, S. K., Elson, S. L., Fletez-Brant, K., Fontanillas, P., Furlotte, N. A., Gandhi, P. M., Heilbron, K., Hicks, B., Hinds, D. A., Huber, K. E., Jewett, E. M., Jiang, Y., Kleinman, A., Lin, K. -H., Litterman, N. K., Luff, M. K., Mccreight, J. C., Mcintyre, M. H., Mcmanus, K. F., Mountain, J. L., Mozaffari, S. V., Nandakumar, P., Noblin, E. S., Northover, C. A. M., O'Connell, J., Petrakovitz, A. A., Pitts, S. J., Poznik, G. D., Sathirapongsasuti, J. F., Shastri, A. J., Shelton, J. F., Tian, C., Tung, J. Y., Tunney, R. J., Vacic, V., Wang, X., Zare, A. S., Voda, A. -I., Kashyap, P., Chang, L., Mayer, E., Heitkemper, M., Sayuk, G. S., Ringel-Kulka, T., Ringel, Y., Chey, W. D., Eswaran, S., Merchant, J. L., Shulman, R. J., Bujanda, L., Garcia-Etxebarria, K., Dlugosz, A., Lindberg, G., Schmidt, P. T., Karling, P., Ohlsson, B., Walter, S., Faresjo, A. O., Simren, M., Halfvarson, J., Portincasa, P., Barbara, G., Usai-Satta, P., Neri, M., Nardone, G., Cuomo, R., Galeazzi, F., Bellini, M., Latiano, A., Houghton, L., Jonkers, D., Kurilshikov, A., Weersma, R. K., Netea, M., Tesarz, J., Gauss, A., Goebel-Stengel, M., Andresen, V., Frieling, T., Pehl, C., Schaefert, R., Niesler, B., Lieb, W., Hanevik, K., Langeland, N., Wensaas, K. -A., Litleskare, S., Gabrielsen, M. E., Thomas, L., Thijs, V., Lemmens, R., Van Oudenhove, L., Wouters, M., Farrugia, G., Franke, A., Hubenthal, M., Abecasis, G., Zawistowski, M., Skogholt, A. H., Ness-Jensen, E., Hveem, K., Esko, T., Teder-Laving, M., Zhernakova, A., Camilleri, M., Boeckxstaens, G., Whorwell, P. J., Spiller, R., Mcvean, G., D'Amato, M., Jostins, L., and Parkes, M.

Subjects
Male, Molecular Chaperone, Mood Disorder, 631/208/205/2138, Biology, 692/699/1503/1502/2071, Bioinformatics, Polymorphism, Single Nucleotide, Genetic pathways, 38/43, Irritable Bowel Syndrome, Cytoskeletal Protein, Genetics, medicine, Genetic predisposition, Aged, Anxiety Disorders, CD56 Antigen, Cell Adhesion Molecules, Cytoskeletal Proteins, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanine Nucleotide Exchange Factors, Homeodomain Proteins, Humans, Middle Aged, Molecular Chaperones, Mood Disorders, United Kingdom, Polymorphism, 692/699/476, Irritable bowel syndrome, Depression (differential diagnoses), article, Homeodomain Protein, Single Nucleotide, Guanine Nucleotide Exchange Factor, medicine.disease, Neuroticism, Biobank, Mood, Cell Adhesion Molecule, Anxiety, medicine.symptom, Anxiety Disorder, Human
Abstract

Funder: Kennedy Trust Rheumatology Research Prize Studentship, Funder: DFG Cluster of Excellence ���Precision Medicine in Chronic In-flammation��� (PMI; ID: EXC2167), Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: ���Ideas��� Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)); doi: https://doi.org/10.13039/100011199; Grant(s): 715772, Funder: NWO-VIDI grant 016.178.056, the Netherlands Heart Foundation CVON grant 2018-27, and NWO Gravitation grant ExposomeNL, Funder: Li Ka Shing Foundation (Li Ka Shing Foundation Limited); doi: https://doi.org/10.13039/100007421, Irritable bowel syndrome (IBS) results from disordered brain���gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. We conducted a genome-wide association study with 53,400 cases and 433,201 controls and replicated significant associations in a 23andMe panel (205,252 cases and 1,384,055 controls). Our study identified and confirmed six genetic susceptibility loci for IBS. Implicated genes included NCAM1, CADM2, PHF2/FAM120A, DOCK9, CKAP2/TPTE2P3 and BAG6. The first four are associated with mood and anxiety disorders, expressed in the nervous system, or both. Mirroring this, we also found strong genome-wide correlation between the risk of IBS and anxiety, neuroticism and depression (rg > 0.5). Additional analyses suggested this arises due to shared pathogenic pathways rather than, for example, anxiety causing abdominal symptoms. Implicated mechanisms require further exploration to help understand the altered brain���gut interactions underlying IBS.

Published
2021
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26. Genome-wide association study of musical beat synchronization demonstrates high polygenicity

Author

Niarchou, Maria, Gustavson, Daniel E., Sathirapongsasuti, J. Fah, Anglada-Tort, Manuel, Eising, Else, Bell, Eamonn, McArthur, Evonne, Straub, Peter, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O’Connell, Jared, Pitts, Steven J., Poznik, G. David, Shastri, Anjali J., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, McAuley, J. Devin, Capra, John A., Ullén, Fredrik, Creanza, Nicole, Mosing, Miriam A., Hinds, David A., Davis, Lea K., Jacoby, Nori, Gordon, Reyna L., and The 23andMe Research Team

Subjects
Multifactorial Inheritance, Behavioral Neuroscience, Social Psychology, Nucleotides, Humans, Experimental and Cognitive Psychology, Polymorphism, Single Nucleotide, Music, Genome-Wide Association Study
Abstract

Moving in synchrony to the beat is a fundamental component of musicality. Here, we conducted a genome-wide association study (GWAS) to identify common genetic variants associated with beat synchronization in 606,825 individuals. Beat synchronization exhibited a highly polygenic architecture, with sixty-nine loci reaching genome-wide significance (p

Published
2022
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28. Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma

Author

Liyanage, Upekha E., primary, MacGregor, Stuart, additional, Bishop, D. Timothy, additional, Shi, Jianxin, additional, An, Jiyuan, additional, Ong, Jue Sheng, additional, Han, Xikun, additional, Scolyer, Richard A., additional, Martin, Nicholas G., additional, Medland, Sarah E., additional, Byrne, Enda M., additional, Green, Adèle C., additional, Saw, Robyn P.M., additional, Thompson, John F., additional, Stretch, Jonathan, additional, Spillane, Andrew, additional, Jiang, Yunxuan, additional, Tian, Chao, additional, Gordon, Scott G., additional, Duffy, David L., additional, Olsen, Catherine M., additional, Whiteman, David C., additional, Long, Georgina V., additional, Iles, Mark M., additional, Landi, Maria Teresa, additional, Law, Matthew H., additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Auton, Adam, additional, Babalola, Elizabeth, additional, Bell, Robert K., additional, Bielenberg, Jessica, additional, Bryc, Katarzyna, additional, Bullis, Emily, additional, Cameron, Briana, additional, Coker, Daniella, additional, Cuellar Partida, Gabriel, additional, Dhamija, Devika, additional, Das, Sayantan, additional, Elson, Sarah L., additional, Filshtein, Teresa, additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Freyman, Will, additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Kleinman, Aaron, additional, Kukar, Katelyn, additional, Lin, Keng-Han, additional, Lowe, Maya, additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Micheletti, Steven J., additional, Moreno, Meghan E., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, O'Connell, Jared, additional, Petrakovitz, Aaron A., additional, Poznik, G. David, additional, Shastri, Anjali J., additional, Shelton, Janie F., additional, Shi, Jingchunzi, additional, Shringarpure, Suyash, additional, Tran, Vinh, additional, Tung, Joyce Y., additional, Wang, Xin, additional, Wang, Wei, additional, Weldon, Catherine H., additional, and Wilton, Peter, additional

Published
2022
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31. Family Presence: Making Room

Author

Mangurten, Janice A., Scott, Shari H., Guzzetta, Cathie E., Sperry, Jenny S., Vinson, Lori A., Hicks, Barry A., Watts, Douglas G., and Scott, Susan M.

Published
2005

35. Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

Author

Ashenhurst, James R., primary, Nhan, Hoang, additional, Shelton, Janie F., additional, Wu, Shirley, additional, Tung, Joyce Y., additional, Elson, Sarah L., additional, Stoller, James K., additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Auton, Adam, additional, Babalola, Elizabeth, additional, Bell, Robert K., additional, Bielenberg, Jessica, additional, Bryc, Katarzyna, additional, Bullis, Emily, additional, Cameron, Briana, additional, Coker, Daniella, additional, Partida, Gabriel Cuellar, additional, Dhamija, Devika, additional, Das, Sayantan, additional, Filshtein, Teresa, additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Freyman, Will, additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Kukar, Katelyn, additional, Lane, Vanessa A., additional, Lin, Keng-Han, additional, Lowe, Maya, additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Micheletti, Steven J., additional, Moreno, Meghan E., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, O’Connell, Jared, additional, Petrakovitz, Aaron A., additional, Poznik, G. David, additional, Schumacher, Morgan, additional, Shastri, Anjali J., additional, Shi, Jingchunzi, additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tran, Vinh, additional, Wang, Xin, additional, Wang, Wei, additional, Weldon, Catherine H., additional, and Wilton, Peter, additional

Published
2022
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38. Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease (Nature Genetics, (2021), 53, 9, (1276-1282), 10.1038/s41588-021-00921-z)

Author

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, Agee, Michelle, Aslibekyan, Stella, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Hicks, Barry, Hinds, David A., Huber, Karen E., and Graduate School

Abstract

In the version of this Article initially published, the author list and affiliations were incomplete. Karl Heilbron and Adam Auton, both with 23andMe, Inc., have been added to the author list. Further, the location for the 23andMe Research Team, now reading “Sunnyvale, CA” initially appeared as Mountain View, CA. The changes have been made to the online version of the paper.

Published
2021

43. The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illness.

Author

Reay, William R., Geaghan, Michael P., 23andMe Research Team, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jey C., and McIntyre, Matthew H.

Subjects
MUCINS, PNEUMONIA, MAJOR histocompatibility complex, BIOLOGY, DRUG repositioning, TUMOR necrosis factors
Abstract

Pneumonia remains one of the leading causes of death worldwide. In this study, we use genome-wide meta-analysis of lifetime pneumonia diagnosis (N = 391,044) to identify four association signals outside of the previously implicated major histocompatibility complex region. Integrative analyses and finemapping of these signals support clinically tractable targets, including the mucin MUC5AC and tumour necrosis factor receptor superfamily member TNFRSF1A. Moreover, we demonstrate widespread evidence of genetic overlap with pneumonia susceptibility across the human phenome, including particularly significant correlations with psychiatric phenotypes that remain significant after testing differing phenotype definitions for pneumonia or genetically conditioning on smoking behaviour. Finally, we show how polygenic risk could be utilised for precision treatment formulation or drug repurposing through pneumonia risk scores constructed using variants mapped to pathways with known drug targets. In summary, we provide insights into the genetic architecture of pneumonia susceptibility and genetics informed targets for drug development or repositioning. Susceptibility to pneumonia has a genetic component, but specific genes involved remain poorly understood. In this study, genetic signals associated with pneumonia susceptibility are identified, providing information about disease biology and potential targets for treatment. [ABSTRACT FROM AUTHOR]

Published
2022
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44. Genome-wide association analysis and replication in 810,625 individuals with varicose veins.

Author

Ahmed, Waheed-Ul-Rahman, Kleeman, Sam, Ng, Michael, Wang, Wei, Auton, Adam, 23andMe Research Team, Agee, Michelle, Aslibekyan, Stella, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., and Huber, Karen E.

Subjects
VARICOSE veins, GENOME-wide association studies, GENE targeting, DISEASE risk factors, VASCULAR smooth muscle, COMPRESSION stockings
Abstract

Varicose veins affect one-third of Western society, with a significant subset of patients developing venous ulceration, costing $14.9 billion annually in the USA. Current management consists of either compression stockings, or surgical ablation for more advanced disease. Most varicose veins patients report a positive family history, and heritability is ~17%. We describe the largest two-stage genome-wide association study of varicose veins in 401,656 individuals from UK Biobank, and replication in 408,969 individuals from 23andMe (total 135,514 cases and 675,111 controls). Forty-nine signals at 46 susceptibility loci were discovered. We map 237 genes to these loci, several of which are biologically plausible and tractable to therapeutic targeting. Pathway analysis identified enrichment in extracellular matrix biology, inflammation, (lymph)angiogenesis, vascular smooth muscle cell migration, and apoptosis. Using a polygenic risk score (PRS) derived in an independent cohort, we demonstrate its predictive utility and correlation with varicose veins surgery. Although varicose veins are a common condition, the genetic basis is not well understood. Here, the authors find genetic variants associated with varicose veins and show that a higher polygenic risk score for varicose veins correlates with a greater likelihood of patients undergoing surgical treatment. [ABSTRACT FROM AUTHOR]

Published
2022
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46. Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy

Author

Krebs, Kristi, primary, Bovijn, Jonas, additional, Zheng, Neil, additional, Lepamets, Maarja, additional, Censin, Jenny C., additional, Jürgenson, Tuuli, additional, Särg, Dage, additional, Abner, Erik, additional, Laisk, Triin, additional, Luo, Yang, additional, Skotte, Line, additional, Geller, Frank, additional, Feenstra, Bjarke, additional, Wang, Wei, additional, Auton, Adam, additional, Raychaudhuri, Soumya, additional, Esko, Tõnu, additional, Metspalu, Andres, additional, Laur, Sven, additional, Roden, Dan M., additional, Wei, Wei-Qi, additional, Holmes, Michael V., additional, Lindgren, Cecilia M., additional, Phillips, Elizabeth J., additional, Mägi, Reedik, additional, Milani, Lili, additional, Fadista, João, additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Clark, Sarah K., additional, Elson, Sarah L., additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Lin, Keng-Han, additional, Litterman, Nadia K., additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, O’Connell, Jared, additional, Petrakovitz, Aaron A., additional, Pitts, Steven J., additional, Poznik, G. David, additional, Sathirapongsasuti, J. Fah, additional, Shastri, Anjali J., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Tunney, Robert J., additional, Vacic, Vladimir, additional, Wang, Xin, additional, and Zare, Amir S., additional

Published
2020
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47. Recombinant green fluorescent protein isoforms: exercises to integrate molecular biology, biochemistry and biophysical chemistry

Author

Hicks, Barry W.

Subjects
Biochemistry -- Study and teaching, DNA -- Study and teaching, Fluorescence spectroscopy -- Usage, Jellyfishes -- Study and teaching, Molecular biology -- Study and teaching, Biophysics -- Study and teaching, Bioluminescence -- Study and teaching, Chemistry, Education, Science and technology
Abstract

Undergraduate biochemistry students can progress in integrating concepts of molecular biology, biophysical chemistry and biochemistry by carrying out project-oriented experiments using fluorescence spectroscopy using the green fluorescent protein (GFP) isoforms. The complementary DNA molecules (cDNAs) encoding a variety of GFP isoforms are among the most significant tools of molecular biology to come to the fore in recent years. Students reinforce principles learned in absorption spectroscopy by using fluorescence spectroscopy to study GFPs at the US Air Force Academy.

Published
1999

48. A simple method to collect viable rainforest tree seeds and study the frugivorous diet of satin bowerbirds (Ptilonorhynchus violaceus)

Author

Hicks, Barry and Elliott, Todd F.

Subjects
ddc:580
Abstract

For more than 100 years, behavioural biologists have extensively studied satin bowerbirds (Ptilonorhynchus violaceus) to understand the complexities of bower construction and courtship, but this research has not accounted for the ecologically important role the species plays as a seed disperser in eastern Australia. In this study, we have used a simple method involving pans of water and mirrors to collect scats from male satin bowerbirds on the Dorrigo Plateau of northeastern New South Wales. Based on seeds identified from scats collected using this method, we identify the fruits of 37 plant species in 22 families that are eaten by satin bowerbirds and show that 35 of these species germinated after passage through the digestive system of bowerbirds. This method was developed for bush regenerators to collect rainforest tree seeds that are otherwise inaccessible and/or difficult to germinate; it is applicable throughout the range of satin bowerbirds. We hope the method will be adopted by bush regenerators for harvesting seeds otherwise difficult to source, and by ornithologists studying the diets and seed dispersal of these ecologically significant birds.

Published
2020

50. Linkage of the acetylcholine transporter-vesamicol receptor to proteoglycan in synaptic vesicles

Author

Bahr, Ben A., Noremberg, Krystyna, Rogers, Gary A., Hicks, Barry W., and Parsons, Stanley M.

Subjects
Cell receptors -- Physiological aspects, Neurotransmitters -- Physiological aspects, Proteoglycans -- Physiological aspects, Biological sciences, Chemistry
Abstract

A study was done on the linkage of the acetylcholine transporter-vesamicol receptor to proteoglycan in synaptic vesicles. Results show a strong linkage between the AcChT-VR and proteoglycan which is controlled by the glycosaminoglycan-like polysaccharide. These findings suggest that the AcChT-VR in intact terminals may be able to communicate with extracellular matrix and participate in stabilization and operation of the synapse.

Published
1992

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