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
Rare coding variants in CHRNB2 reduce the likelihood of smoking Rajagopal, Veera R.; Watanabe, Kyoko; Mbatchou, Joelle; Ayer, Ariane M.; Quon, Peter; Sharma, Deepika A.; Kessler, Michael; Praveen, Kavita; Gelfman, Sahar; Parikshak, Neelroop; Otto, Jacqueline; Bao, Suying; Chim, Shek Man; Pavlopoulos, Elias; Avbersek, Andreja; Kapoor, Manav; Chen, Esteban; Jones, Marcus; Leblanc, Michelle; Emberson, Jonathan; Collins, Rory; Torres, Jason; Morales, Pablo Kuri; Tapia-Conyer, Roberto; Alegre, Jesus; Berumen, Jaime; Shuldiner, Alan; GHS REGN DiscovEHR Collaboration; Regeneron Genetics Ctr; Balasubramanian, Suganthi; Abecasis, Goncalo R.; Kang, Hyun; Marchini, Jonathan; Stahl, Eli; Jorgenson, Eric; Sanchez, Robert; Liedtke, Wolfang; Anderson, Matthew; Cantor, Michael; Lederer, David; Baras, Aris; Coppola, Giovanni Share Save
Prevalence of proximate risk factors of active tuberculosis in latent tuberculosis infection: A cross-sectional study from South India Munisankar, Saravanan; Rajamanickam, Anuradha; Balasubramanian, Suganthi; Muthusamy, Satishwaran; Menon, Pradeep Aravindan; Ahamed, Shaik Fayaz; Whalen, Christopher; Gumne, Paschaline; Kaur, Inderdeep; Nadimpalli, Varma; Deverakonda, Akshay; Chen, Zhenhao; Otto, John David; Habitegiyorgis, Tesfalidet; Kandaswamy, Harish; Babu, Subash 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
Seroprevalence of Strongyloides stercoralis infection in a South Indian adult population Munisankar, Saravanan; Rajamanickam, Anuradha; Balasubramanian, Suganthi; Muthusamy, Satishwaran; Dolla, Chandra Kumar; Menon, Pradeep Aravindan; Chinnayan, Ponnuraja; Whalen, Christopher; Gumne, Paschaline; Kaur, Inderdeep; Nadimpalli, Varma; Deverakonda, Akshay; Chen, Zhenhao; Otto, John David; Habitegiyorgis, Tesfalidet; Kandaswamy, Harish; Nutman, Thomas B.; Babu, Subash 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
Insights Obtained by Culturing Saccharibacteria With Their Bacterial Hosts Bor, B.; Collins, A. J.; Murugkar, P. P.; Balasubramanian, S.; To, T. T.; Hendrickson, E. L.; Bedree, J. K.; Bidlack, F. B.; Johnston, C. D.; Shi, W.; McLean, J. S.; He, X.; Dewhirst, F. E. Share Save
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes Staples, Jeffrey; Maxwell, Evan K.; Gosalia, Nehal; Gonzaga-Jauregui, Claudia; Snyder, Christopher; Hawes, Alicia; Penn, John; Ulloa, Ricardo; Bai, Xiaodong; Lopez, Alexander E.; Van Hout, Cristopher V.; O'Dushlaine, Colm; Teslovich, Tanya M.; McCarthy, Shane E.; Balasubramanian, Suganthi; Kirchner, H. Lester; Leader, Joseph B.; Murray, Michael F.; Ledbetter, David H.; Shuldiner, Alan R.; Yancoupolos, George D.; Dewey, Frederick E.; Carey, David J.; Overton, John D.; Baras, Aris; Habegger, Lukas; Reid, Jeffrey G. Share Save
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease Abul-Husn, N. S.; Cheng, X.; Li, A. H.; Xin, Y.; Schurmann, C.; Stevis, P.; Liu, Y.; Kozlitina, J.; Stender, S.; Wood, G. C.; Stepanchick, A. N.; Still, M. D.; McCarthy, S.; O'Dushlaine, C.; Packer, J. S.; Balasubramanian, S.; Gosalia, N.; Esopi, D.; Kim, S. Y.; Mukherjee, S.; Lopez, A. E.; Fuller, E. D.; Penn, J.; Chu, X.; Luo, J. Z.; Mirshahi, U. L.; Carey, D. J.; Still, C. D.; Feldman, M. D.; Small, A.; Damrauer, S. M.; Rader, D. J.; Zambrowicz, B.; Olson, W.; Murphy, A. J.; Borecki, I. B.; Shuldiner, A. R.; Reid, J. G.; Overton, J. D.; Yancopoulos, G. D.; Hobbs, H. H.; Cohen, J. C.; Gottesman, O.; Teslovich, T. M.; Baras, A.; Mirshahi, T.; Gromada, J.; Dewey, F. E. Share Save
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Design and Implementation of the International Genetics and Translational Research in Transplantation Network Keating, Brendan J.; van Setten, Jessica; Jacobson, Pamala A.; Holmes, Michael V.; Verma, Shefali S.; Chandrupatla, Hareesh R.; Nair, Nikhil; Gao, Hui; Li, Yun R.; Chang, Bao-Li; Wong, Chanel; Phillips, Randy; Cole, Brian S.; Mukhtar, Eyas; Zhang, Weijia; Cao, Hongzhi; Mohebnasab, Maede; Hou, Cuiping; Lee, Takesha; Steel, Laura; Shaked, Oren; Garifallou, James; Miller, Michael B.; Karczewski, Konrad J.; Akdere, Abdullah; Gonzalez, Ana; Lloyd, Kelsey M.; McGinn, Daniel; Michaud, Zach; Colasacco, Abigail; Lek, Monkol; Fu, Yao; Pawashe, Mayur; Guettouche, Toumy; Himes, Aubree; Perez, Leat; Guan, Weihua; Wu, Baolin; Schladt, David; Menon, Madhav; Zhang, Zhongyang; Tragante, Vinicius; de Jonge, Nicolaas; Otten, Henny G.; de Weger, Roel A.; van de Graaf, Ed A.; Baan, Carla C.; Manintveld, Olivier C.; De Vlaminck, Iwijn; Piening, Brian D.; Strehl, Calvin; Shaw, Mary; Snieder, Harold; Klintmalm, Goran B.; O'Leary, Jacqueline G.; Amaral, Sandra; Goldfarb, Samuel; Rand, Elizabeth; Rossano, Joseph W.; Kohli, Utkarsh; Heeger, Peter; Stahl, Eli; Christie, Jason D.; Fuentes, Maria Hernandez; Levine, John E.; Aplenc, Richard; Schadt, Eric E.; Stranger, Barbara E.; Kluin, Jolanda; Potena, Luciano; Zuckermann, Andreas; Khush, Kiran; Alzahrani, Alhusain J.; Al-Muhanna, Fahad A.; Al-Ali, Amein K.; Al-Ali, Rudaynah; Al-Rubaish, Abdullah M.; Al-Mueilo, Samir; Byrne, Edna M.; Miller, David; Alexander, Stephen I.; Onengut-Gumuscu, Suna; Rich, Stephen S.; Suthanthiran, Manikkam; Tedesco, Helio; Saw, Chee L.; Ragoussis, Jiannis; Kfoury, Abdallah G.; Horne, Benjamin; Carlquist, John; Gerstein, Mark B.; Reindl-Schwaighofer, Roman; Oberbauer, Rainer; Wijmenga, Cisca; Palmer, Scott; Pereira, Alexandre C.; Segovia, Javier; Alonso-Pulpon, Luis A.; Comez-Bueno, Manuel; Vilches, Carlos; Jaramillo, Natalia; de Borst, Martin H.; Naesens, Maarten; Hao, Ke; MacArthur, DanielG.; Balasubramanian, Suganthi; Conlon, Peter J.; Lord, Graham M.; Ritchie, Marylyn D.; Snyder, Michael; Olthoff, Kim M.; Moore, Jason H.; Petersdorf, Effie W.; Kamoun, Malek; Wang, Jun; Monos, Dimitri S.; de Bakker, Paul I. W.; Hakonarson, Hakon; Murphy, Barbara; Lankree, Matthew B.; Garcia-Pavia, Pablo; Oetting, William S.; Birdwell, Kelly A.; Bakker, Stephan J. L.; Israni, Ajay K.; Shaked, Abraham; Asselbergs, Folkert W. Share Save
Enhanced transcriptome maps from multiple mouse tissues reveal evolutionary constraint in gene expression Pervouchine, Dmitri D.; Djebali, Sarah; Breschi, Alessandra; Davis, Carrie A.; Barja, Pablo Prieto; Dobin, Alex; Tanzer, Andrea; Lagarde, Julien; Zaleski, Chris; See, Lei-Hoon; Fastuca, Meagan; Drenkow, Jorg; Wang, Huaien; Bussotti, Giovanni; Pei, Baikang; Balasubramanian, Suganthi; Monlong, Jean; Harmanci, Arif; Gerstein, Mark; Beer, Michael A.; Notredame, Cedric; Guigo, Roderic; Gingeras, Thomas R. Share Save
Comparative analysis of pseudogenes across three phyla Sisu, Cristina; Pei, Baikang; Leng, Jing; Frankish, Adam; Zhang, Yan; Balasubramanian, Suganthi; Harte, Rachel; Wang, Daifeng; Rutenberg-Schoenberg, Michael; Clark, Wyatt; Diekhans, Mark; Rozowsky, Joel; Hubbard, Tim; Harrow, Jennifer; Gerstein, Mark B. Share Save
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GENCODE: The reference human genome annotation for The ENCODE Project Harrow, Jennifer; Frankish, Adam; Gonzalez, Jose M.; Tapanari, Electra; Diekhans, Mark; Kokocinski, Felix; Aken, Bronwen L.; Barrell, Daniel; Zadissa, Amonida; Searle, Stephen; Barnes, If; Bignell, Alexandra; Boychenko, Veronika; Hunt, Toby; Kay, Mike; Mukherjee, Gaurab; Rajan, Jeena; Despacio-Reyes, Gloria; Saunders, Gary; Steward, Charles; Harte, Rachel; Lin, Michael; Howald, Cedric; Tanzer, Andrea; Derrien, Thomas; Chrast, Jacqueline; Walters, Nathalie; Balasubramanian, Suganthi; Pei, Baikang; Tress, Michael; Manuel Rodriguez, Jose; Ezkurdia, Iakes; van Baren, Jeltje; Brent, Michael; Haussler, David; Kellis, Manolis; Valencia, Alfonso; Reymond, Alexandre; Gerstein, Mark; Guigo, Roderic; Hubbard, Tim J. Share Save
The GENCODE pseudogene resource Pei, Baikang; Sisu, Cristina; Frankish, Adam; Howald, Cedric; Habegger, Lukas; Mu, Xinmeng Jasmine; Harte, Rachel; Balasubramanian, Suganthi; Tanzer, Andrea; Diekhans, Mark; Reymond, Alexandre; Hubbard, Tim J.; Harrow, Jennifer; Gerstein, Mark B. Share Save
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