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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
Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application Sun, Xianbang; Bulekova, Katia; Yang, Jian; Lai, Meng; Pitsillides, Achilleas N.; Liu, Xue; Zhang, Yuankai; Guo, Xiuqing; Yong, Qian; Raffield, Laura M.; Rotter, Jerome I.; Rich, Stephen S.; Abecasis, Goncalo; Carson, April P.; Vasan, Ramachandran S.; Bis, Joshua C.; Psaty, Bruce M.; Boerwinkle, Eric; Fitzpatrick, Annette L.; Satizabal, Claudia L.; Arking, Dan E.; Ding, Jun; Levy, Daniel; Liu, Chunyu Share Save
Joint testing of rare variant burden scores using non-negative least squares Ziyatdinov, Andrey; Mbatchou, Joelle; Marcketta, Anthony; Backman, Joshua; Gaynor, Sheila; Zou, Yuxin; Joseph, Tyler; Geraghty, Benjamin; Herman, Joseph; Watanabe, Kyoko; Ghosh, Arkopravo; Kosmicki, Jack; Locke, Adam; Thornton, Timothy; Kang, Hyun Min; Ferreira, Manuel; Baras, Aris; Abecasis, Goncalo; Marchini, Jonathan 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
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration Kwong, Alan; Zawistowski, Matthew; Fritsche, Lars G.; Zhan, Xiaowei; Bragg-Gresham, Jennifer; Branham, Kari E.; Advani, Jayshree; Othman, Mohammad; Ratnapriya, Rinki; Teslovich, Tanya M.; Stambolian, Dwight; Chew, Emily Y.; Abecasis, Goncalo R.; Swaroop, Anand Share Save
Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk Liu, Xue; Sun, Xianbang; Zhang, Yuankai; Jiang, Wenqing; Lai, Meng; Wiggins, Kerri L.; Raffield, Laura M.; Bielak, Lawrence F.; Zhao, Wei; Pitsillides, Achilleas; Haessler, Jeffrey; Zheng, Yinan; Blackwell, Thomas W.; Yao, Jie; Guo, Xiuqing; Qian, Yong; Thyagarajan, Bharat; Pankratz, Nathan; Rich, Stephen S.; Taylor, Kent D.; Peyser, Patricia A.; Heckbert, Susan R.; Seshadri, Sudha; Boerwinkle, Eric; Grove, Megan L.; Larson, Nicholas B.; Smith, Jennifer A.; Vasan, Ramachandran S.; Fitzpatrick, Annette L.; Fornage, Myriam; Ding, Jun; Carson, April P.; Abecasis, Goncalo; Dupuis, Josee; Reiner, Alexander; Kooperberg, Charles; Hou, Lifang; Psaty, Bruce M.; Wilson, James G.; Levy, Daniel; Rotter, Jerome I.; Bis, Joshua C.; Satizabal, Claudia L.; Arking, Dan E.; Liu, Chunyu 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
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
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes Weinstock, Joshua S.; Laurie, Cecelia A.; Broome, Jai G.; Taylor, Kent D.; Guo, Xiuqing; Shuldiner, Alan R.; O'Connell, Jeffrey R.; Lewis, Joshua P.; Boerwinkle, Eric; Barnes, Kathleen C.; Chami, Nathalie; Kenny, Eimear E.; Loos, Ruth J. F.; Fornage, Myriam; Redline, Susan; Cade, Brian E.; Gilliland, Frank D.; Chen, Zhanghua; Gauderman, W. James; Kumar, Rajesh; Grammer, Leslie; Schleimer, Robert P.; Psaty, Bruce M.; Bis, Joshua C.; Brody, Jennifer A.; Silverman, Edwin K.; Yun, Jeong H.; Qiao, Dandi; Weiss, Scott T.; Lasky-Su, Jessica; DeMeo, Dawn L.; Palmer, Nicholette D.; Freedman, Barry I.; Bowden, Donald W.; Cho, Michael H.; Vasan, Ramachandran S.; Johnson, Andrew D.; Yanek, Lisa R.; Becker, Lewis C.; Kardia, Sharon; He, Jiang; Kaplan, Robert; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Arnett, Donna K.; Irvin, Marguerite R.; Tiwari, Hemant; Correa, Adolfo; Raffield, Laura M.; Gao, Yan; de Andrade, Mariza; Rotter, Jerome I.; Rich, Stephen S.; Manichaikul, Ani W.; Konkle, Barbara A.; Johnsen, Jill M.; Wheeler, Marsha M.; Custer, Brian S.; Duggirala, Ravindranath; Curran, Joanne E.; Blangero, John; Gui, Hongsheng; Xiao, Shujie; Williams, L. Keoki; Meyers, Deborah A.; Li, Xingnan; Ortega, Victor; McGarvey, Stephen; Gu, C. Charles; Chen, Yii-Der Ida; Lee, Wen-Jane; Shoemaker, M. Benjamin; Darbar, Dawood; Roden, Dan; Albert, Christine; Kooperberg, Charles; Desai, Pinkal; Blackwell, Thomas W.; Abecasis, Goncalo R.; V. Smith, Albert; Kang, Hyun M.; Mathias, Rasika; Natarajan, Pradeep; Jaiswal, Siddhartha; Reiner, Alexander P.; Bick, Alexander G. Share Save
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits Costanzo, Maria C.; von Grotthuss, Marcin; Massung, Jeffrey; Jang, Dongkeun; Caulkins, Lizz; Koesterer, Ryan; Gilbert, Clint; Welch, Ryan P.; Kudtarkar, Parul; Hoang, Quy; Boughton, Andrew P.; Singh, Preeti; Sun, Ying; Duby, Marc; Moriondo, Annie; Nguyen, Trang; Smadbeck, Patrick; Alexander, Benjamin R.; Brandes, MacKenzie; Carmichael, Mary; Dornbos, Peter; Green, Todd; Huellas-Bruskiewicz, Kenneth C.; Ji, Yue; Kluge, Alexandria; McMahon, Aoife C.; Mercader, Josep M.; Ruebenacker, Oliver; Sengupta, Sebanti; Spalding, Dylan; Taliun, Daniel; Smith, Philip; Thomas, Melissa K.; Akolkar, Beena; Brosnan, M. Julia; Cherkas, Andriy; Chu, Audrey Y.; Fauman, Eric B.; Fox, Caroline S.; Kamphaus, Tania Nayak; Miller, Melissa R.; Nguyen, Lynette; Parsa, Afshin; Reilly, Dermot F.; Ruetten, Hartmut; Wholley, David; Zaghloul, Norann A.; Abecasis, Goncalo R.; Altshuler, David; Keane, Thomas M.; McCarthy, Mark I.; Gaulton, Kyle J.; Florez, Jose C.; Boehnke, Michael; Burtt, Noel P.; Flannick, Jason Share Save
The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients Zawistowski, Matthew; Fritsche, Lars G.; Pandit, Anita; Vanderwerff, Brett; Patil, Snehal; Schmidt, Ellen M.; VandeHaar, Peter; Willer, Cristen J.; Brummett, Chad M.; Kheterpal, Sachin; Zhou, Xiang; Boehnke, Michael; Abecasis, Goncalo R.; Zollner, Sebastian Share Save
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program Wheeler, Marsha M.; Stilp, Adrienne M.; Rao, Shuquan; Halldorsson, Bjarni V.; Beyter, Doruk; Wen, Jia; Mihkaylova, Anna V.; McHugh, Caitlin P.; Lane, John; Jiang, Min-Zhi; Raffield, Laura M.; Jun, Goo; Sedlazeck, Fritz J.; Metcalf, Ginger; Yao, Yao; Bis, Joshua B.; Chami, Nathalie; de Vries, Paul S.; Desai, Pinkal; Floyd, James S.; Gao, Yan; Kammers, Kai; Kim, Wonji; Moon, Jee-Young; Ratan, Aakrosh; Yanek, Lisa R.; Almasy, Laura; Becker, Lewis C.; Blangero, John; Cho, Michael H.; Curran, Joanne E.; Fornage, Myriam; Kaplan, Robert C.; Lewis, Joshua P.; Loos, Ruth J. F.; Mitchell, Braxton D.; Morrison, Alanna C.; Preuss, Michael; Psaty, Bruce M.; Rich, Stephen S.; Rotter, Jerome I.; Tang, Hua; Tracy, Russell P.; Boerwinkle, Eric; Abecasis, Goncalo R.; Blackwell, Thomas W.; Smith, Albert V.; Johnson, Andrew D.; Mathias, Rasika A.; Nickerson, Deborah A.; Conomos, Matthew P.; Li, Yun; Forsteinsdottir, Unnur; Magnusson, Magnus K.; Stefansson, Kari; Pankratz, Nathan D.; Bauer, Daniel E.; Auer, Paul L.; Reiner, Alex P. Share Save
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology (vol 3, 1632, 2022) Sajuthi, Satria P.; Everman, Jamie L.; Jackson, Nathan D.; Saef, Benjamin; Rios, Cydney L.; Moore, Camille M.; Mak, Angel C. Y.; Eng, Celeste; Fairbanks-Mahnke, Ana; Salazar, Sandra; Elhawary, Jennifer; Huntsman, Scott; Medina, Vivian; Nickerson, Deborah A.; Germer, Soren; Zody, Michael C.; Abecasis, Goncalo; Kang, Hyun Min; Rice, Kenneth M.; Kumar, Rajesh; Zaitlen, Noah A.; Oh, Sam; Rodriguez-Santana, Jose; Burchard, Esteban G.; Seibold, Max A. Share Save
The HUNT study: A population-based cohort for genetic research Brumpton, Ben M.; Graham, Sarah; Surakka, Ida; Skogholt, Anne Heidi; Loset, Mari; Fritsche, Lars G.; Wolford, Brooke; Zhou, Wei; Nielsen, Jonas Bille; Holmen, Oddgeir L.; Gabrielsen, Maiken E.; Thomas, Laurent; Bhatta, Laxmi; Rasheed, Humaira; Zhang, He; Kang, Hyun Min; Hornsby, Whitney; Moksnes, Marta Riise; Coward, Eivind; Melbye, Mads; Giskeodegard, Guro F.; Fenstad, Jorn; Krokstad, Steinar; Naess, Marit; Langhammer, Arnulf; Boehnke, Michael; Abecasis, Goncalo R.; Asvold, Bjorn Olav; Hveem, Kristian; Willer, Cristen J. Share Save
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension Kelly, Tanika N.; Sun, Xiao; He, Karen Y.; Brown, Michael R.; Taliun, Sarah A. Gagliano; Hellwege, Jacklyn N.; Irvin, Marguerite R.; Mi, Xuenan; Brody, Jennifer A.; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; de Vries, Paul S.; Gao, Yan; Moscati, Arden; Nadkarni, Girish N.; Yanek, Lisa R.; Elfassy, Tali; Smith, Jennifer A.; Chung, Ren-Hua; Beitelshees, Amber L.; Patki, Amit; Aslibekyan, Stella; Blobner, Brandon M.; Peralta, Juan M.; Assimes, Themistocles L.; Palmas, Walter R.; Liu, Chunyu; Bress, Adam P.; Huang, Zhijie; Becker, Lewis C.; Hwa, Chii-Min; O'Connell, Jeffrey R.; Carlson, Jenna C.; Warren, Helen R.; Das, Sayantan; Giri, Ayush; Martin, Lisa W.; Craig Johnson, W.; Fox, Ervin R.; Bottinger, Erwin P.; Razavi, Alexander C.; Vaidya, Dhananjay; Chuang, Lee-Ming; Chang, Yen-Pei C.; Naseri, Take; Jain, Deepti; Kang, Hyun Min; Hung, Adriana M.; Srinivasasainagendra, Vinodh; Snively, Beverly M.; Gu, Dongfeng; Montasser, May E.; Reupena, Muagututi'a Sefuiva; Heavner, Benjamin D.; LeFaive, Jonathon; Hixson, James E.; Rice, Kenneth M.; Wang, Fei Fei; Nielsen, Jonas B.; Huang, Jianfeng; Khan, Alyna T.; Zhou, Wei; Nierenberg, Jovia L.; Laurie, Cathy C.; Armstrong, Nicole D.; Shi, Mengyao; Pan, Yang; Stilp, Adrienne M.; Emery, Leslie; Wong, Quenna; Hawley, Nicola L.; Minster, Ryan L.; Curran, Joanne E.; Munroe, Patricia B.; Weeks, Daniel E.; North, Kari E.; Tracy, Russell P.; Kenny, Eimear E.; Shimbo, Daichi; Chakravarti, Aravinda; Rich, Stephen S.; Reiner, Alex P.; Blangero, John; Redline, Susan; Mitchell, Braxton D.; Rao, Dabeeru C.; Ida Chen, Yii-Der; Kardia, Sharon L. R.; Kaplan, Robert C.; Mathias, Rasika A.; He, Jiang; Psaty, Bruce M.; Fornage, Myriam; Loos, Ruth J. F.; Correa, Adolfo; Boerwinkle, Eric; Rotter, Jerome I.; Kooperberg, Charles; Edwards, Todd L.; Abecasis, Goncalo R.; Zhu, Xiaofeng; Levy, Daniel; Arnett, Donna K.; Morrison, Alanna C. Share Save
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