Not logged in Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery Gillies, Christopher E.; Mbatchou, Joelle; Habegger, Lukas; Kessler, Michael D.; Bao, Suying; Balasubramanian, Suganthi; Delaneau, Olivier; Kosmicki, Jack A.; Willer, Cristen J.; Kang, Hyun Min; Baras, Aris; Reid, Jeffrey G.; Marchini, Jonathan; Abecasis, Goncalo R.; Ghoussaini, Maya Share Save
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank Gaynor, Sheila M.; Joseph, Tyler; Bai, Xiaodong; Zou, Yuxin; Boutkov, Boris; Maxwell, Evan K.; Delaneau, Olivier; Hofmeister, Robin J.; Krasheninina, Olga; Balasubramanian, Suganthi; Marcketta, Anthony; Backman, Joshua; Reid, Jeffrey G.; Overton, John D.; Lotta, Luca A.; Marchini, Jonathan; Salerno, William J.; Baras, Aris; Abecasis, Goncalo R.; Thornton, Timothy A. Share Save
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. Share Save
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis Zhou, Sirui; Sosina, Olukayode A.; Bovijn, Jonas; Laurent, Laetitia; Sharma, Vasundhara; Akbari, Parsa; Forgetta, Vincenzo; Jiang, Lai; Kosmicki, Jack A.; Banerjee, Nilanjana; Morris, John A.; Oerton, Erin; Jones, Marcus; LeBlanc, Michelle G.; Idone, Vincent; Overton, John D.; Reid, Jeffrey G.; Cantor, Michael; Abecasis, Goncalo R.; Goltzman, David; Greenwood, Celia M. T.; Langenberg, Claudia; Baras, Aris; Economides, Aris N.; Ferreira, Manuel A. R.; Hatsell, Sarah; Ohlsson, Claes; Richards, J. Brent; Lotta, Luca A. Share Save
Germline Mutations in CIDEB and Protection against Liver Disease Verweij, N.; Haas, M. E.; Nielsen, J. B.; Sosina, O. A.; Kim, M.; Akbari, P.; De, T.; Hindy, G.; Bovijn, J.; Persaud, T.; Miloscio, L.; Germino, M.; Panagis, L.; Watanabe, K.; Mbatchou, J.; Jones, M.; LeBlanc, M.; Balasubramanian, S.; Lammert, C.; Enhorning, S.; Melander, O.; Carey, D. J.; Still, C. D.; Mirshahi, T.; Rader, D. J.; Parasoglou, P.; Walls, J. R.; Overton, J. D.; Reid, J. G.; Economides, A.; Cantor, M. N.; Zambrowicz, B.; Murphy, A. J.; Abecasis, G. R.; Ferreira, M. A. R.; Smagris, E.; Gusarova, V; Sleeman, M.; Yancopoulos, G. D.; Marchini, J.; Kang, H. M.; Karalis, K.; Shuldiner, A. R.; Della Gatta, G.; Locke, A. E.; Baras, A.; Lotta, L. A. Share Save
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects Howe, Laurence J.; Nivard, Michel G.; Morris, Tim T.; Hansen, Ailin F.; Rasheed, Humaira; Cho, Yoonsu; Chittoor, Geetha; Ahlskog, Rafael; Lind, Penelope A.; Palviainen, Teemu; van der Zee, Matthijs D.; Cheesman, Rosa; Mangino, Massimo; Wang, Yunzhang; Li, Shuai; Klaric, Lucija; Ratliff, Scott M.; Bielak, Lawrence F.; Nygaard, Marianne; Giannelis, Alexandros; Willoughby, Emily A.; Reynolds, Chandra A.; Balbona, Jared V.; Andreassen, Ole A.; Ask, Helga; Baras, Aris; Bauer, Christopher R.; Boomsma, Dorret I.; Campbell, Archie; Campbell, Harry; Chen, Zhengming; Christofidou, Paraskevi; Corfield, Elizabeth; Dahm, Christina C.; Dokuru, Deepika R.; Evans, Luke M.; de Geus, Eco J. C.; Giddaluru, Sudheer; Gordon, Scott D.; Harden, K. Paige; Hill, W. David; Hughes, Amanda; Kerr, Shona M.; Kim, Yongkang; Kweon, Hyeokmoon; Latvala, Antti; Lawlor, Deborah A.; Li, Liming; Lin, Kuang; Magnus, Per; Magnusson, Patrik K. E.; Mallard, Travis T.; Martikainen, Pekka; Mills, Melinda C.; Njolstad, Pal Rasmus; Overton, John D.; Pedersen, Nancy L.; Porteous, David J.; Reid, Jeffrey; Silventoinen, Karri; Southey, Melissa C.; Stoltenberg, Camilla; Tucker-Drob, Elliot M.; Wright, Margaret J.; Kweon, Hyeokmoon; Hewitt, John K.; Keller, Matthew C.; Stallings, Michael C.; Lee, James J.; Christensen, Kaare; Kardia, Sharon L. R.; Peyser, Patricia A.; Smith, Jennifer A.; Wilson, James F.; Hopper, John L.; Hagg, Sara; Spector, Tim D.; Pingault, Jean-Baptiste; Plomin, Robert; Havdahl, Alexandra; Bartels, Meike; Martin, Nicholas G.; Oskarsson, Sven; Justice, Anne E.; Millwood, Iona Y.; Hveem, Kristian; Naess, Oyvind; Willer, Cristen J.; Asvold, Bjorn Olav; Koellinger, Philipp D.; Kaprio, Jaakko; Medland, Sarah E.; Walters, Robin G.; Benjamin, Daniel J.; Turley, Patrick; Evans, David M.; Smith, George Davey; Hayward, Caroline; Brumpton, Ben; Hemani, Gibran; Davies, Neil M. Share Save
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants Finucane, Brenda; Oetjens, Matthew T.; Johns, Alicia; Myers, Scott M.; Fisher, Ciaran; Habegger, Lukas; Maxwell, Evan K.; Reid, Jeffrey G.; Ledbetter, David H.; Kirchner, H. Lester; Martin, Christa Lese Share Save
Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population Kozlitina, Julia; Garg, Sonia; Drazner, Mark H.; Matulevicius, Susan A.; Ayers, Colby; Overton, John; Reid, Jeffrey; Baras, Aris; Rao, Krishnasree; Pandey, Ambarish; Berry, Jarett; de Lemos, James A.; Grodin, Justin L. Share Save
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, Slave; Miller, Melissa R.; Baras, Aris; Mitnaul, Lyndon J.; Reid, Jeffrey G. Share Save
Computationally efficient whole-genome regression for quantitative and binary traits Mbatchou, Joelle; Barnard, Leland; Backman, Joshua; Marcketta, Anthony; Kosmicki, Jack A.; Ziyatdinov, Andrey; Benner, Christian; O'Dushlaine, Colm; Barber, Mathew; Boutkov, Boris; Habegger, Lukas; Ferreira, Manuel; Baras, Aris; Reid, Jeffrey; Abecasis, Goncalo; Maxwell, Evan; Marchini, Jonathan Share Save
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease Horowitz, Julie E.; Warner, Neil; Staples, Jeffrey; Crowley, Eileen; Gosalia, Nehal; Murchie, Ryan; Van Hout, Cristopher; Fiedler, Karoline; Welch, Gabriel; King, Alejandra Klauer; Reid, Jeffrey G.; Overton, John D.; Baras, Aris; Shuldiner, Alan R.; Griffiths, Anne; Gottesman, Omri; Muise, Aleixo M.; Gonzaga-Jauregui, Claudia Share Save
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity Gu, Xiangchen; Yang, Hongliu; Sheng, Xin; Ko, Yi-An; Qiu, Chengxiang; Park, Jihwan; Huang, Shizheng; Kember, Rachel; Judy, Renae L.; Park, Joseph; Damrauer, Scott M.; Nadkarni, Girish; Loos, Ruth J. F.; Vy Thi Ha My; Chaudhary, Kumardeep; Bottinger, Erwin P.; Paranjpe, Ishan; Saha, Aparna; Brown, Christopher; Akilesh, Shreeram; Hung, Adriana M.; Palmer, Matthew; Baras, Aris; Overton, John D.; Reid, Jeffrey; Ritchie, Marylyn; Rader, Daniel J.; Susztak, Katalin Share Save
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations Park, Joseph; Lucas, Anastasia M.; Zhang, Xinyuan; Chaudhary, Kumardeep; Cho, Judy H.; Nadkarni, Girish; Dobbyn, Amanda; Chittoor, Geetha; Josyula, Navya S.; Katz, Nathan; Breeyear, Joseph H.; Ahmadmehrabi, Shadi; Drivas, Theodore G.; Chavali, Venkata R. M.; Fasolino, Maria; Sawada, Hisashi; Daugherty, Alan; Li, Yanming; Zhang, Chen; Bradford, Yuki; Weaver, JoEllen; Verma, Anurag; Judy, Renae L.; Kember, Rachel L.; Overton, John D.; Reid, Jeffrey G.; Ferreira, Manuel A. R.; Li, Alexander H.; Baras, Aris; LeMaire, Scott A.; Shen, Ying H.; Naji, Ali; Kaestner, Klaus H.; Vahedi, Golnaz; Edwards, Todd L.; Chen, Jinbo; Damrauer, Scott M.; Justice, Anne E.; Do, Ron; Ritchie, Marylyn D.; Rader, Daniel J. Share Save
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort Gonzaga-Jauregui, Claudia; Ge, Wenzhen; Staples, Jeffrey; Van Hout, Cristopher; Yadav, Ashish; Colonie, Ryan; Leader, Joseph B.; Kirchner, H. Lester; Murray, Michael F.; Reid, Jeffrey G.; Carey, David J.; Overton, John D.; Shuldiner, Alan R.; Gottesman, Omri; Gao, Steve; Gromada, Jesper; Baras, Aris; Altarejos, Judith Share Save
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry Damrauer, Scott M.; Chaudhary, Kumardeep; Cho, Judy H.; Liang, Lusha W.; Argulian, Edgar; Chan, Lili; Dobbyn, Amanda; Guerraty, Marie A.; Judy, Renae; Kay, Jenna; Kember, Rachel L.; Levin, Michael G.; Saha, Aparna; Van Vleck, Tielman; Verma, Shefali S.; Weaver, JoEllen; Abul-Husn, Noura S.; Baras, Aris; Chirinos, Julio A.; Drachman, Brian; Kenny, Eimear E.; Loos, Ruth J. F.; Narula, Jagat; Overton, John; Reid, Jeffrey; Ritchie, Marylyn; Sirugo, Giorgio; Nadkarni, Girish; Rader, Daniel J.; Do, Ron Share Save
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Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations (vol 10, 1499, 2019) Kranzler, Henry R.; Zhou, Hang; Kember, Rachel L.; Smith, Rachel Vickers; Justice, Amy C.; Damrauer, Scott; Tsao, Philip S.; Klarin, Derek; Baras, Aris; Reid, Jeffrey; Overton, John; Rader, Daniel J.; Cheng, Zhongshan; Tate, Janet P.; Becker, William C.; Concato, John; Xu, Ke; Polimanti, Renato; Zhao, Hongyu; Gelernter, Joel Share Save
Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations (vol 10, 1499, 2019) Kranzler, Henry R.; Zhou, Hang; Kember, Rachel L.; Smith, Rachel Vickers; Justice, Amy C.; Damrauer, Scott; Tsao, Philip S.; Klarin, Derek; Baras, Aris; Reid, Jeffrey; Overton, John; Rader, Daniel J.; Cheng, Zhongshan; Tate, Janet P.; Becker, William C.; Concato, John; Xu, Ke; Polimanti, Renato; Zhao, Hongyu; Gelernter, Joel Share Save
Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations Kranzler, Henry R.; Zhou, Hang; Kember, Rachel L.; Smith, Rachel Vickers; Justice, Amy C.; Damrauer, Scott; Tsao, Philip S.; Klarin, Derek; Baras, Aris; Reid, Jeffrey; Oyerton, John; Rader, Daniel J.; Cheng, Zhongshan; Tate, Janet P.; Becker, William C.; Concato, John; Xu, Ke; Polimanti, Renato; Zhao, Hongyu; Gelernter, Joel Share Save
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