Polygenic scores for low lung function and the future risk of adverse health outcomes ανά Suneela Zaigham, Isabel Gonçalves, Regeneron Genetics Center, Gunnar Engström, Jiangming Sun

Λήψη πλήρους κειμένου

Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish ανά Megan T. Lynch, Kristin A. Maloney, Huichun Xu, James A. Perry, Regeneron Genetics Center, Alan R. Shuldiner, Braxton D. Mitchell

Λήψη πλήρους κειμένου

Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study... ανά Eric Manderstedt, Christina Lind‐Halldén, Christer Halldén, Johan Elf, Peter J. Svensson, Gunnar Engström, Olle Melander, Aris Baras, Luca A. Lotta, Bengt Zöller, for the Regeneron Genetics Center

Λήψη πλήρους κειμένου

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population ανά Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Regeneron Genetics Center, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie, Sony Tuteja

Λήψη πλήρους κειμένου

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings ανά Shek Man Chim, Kristen Howell, John Dronzek, Weizhen Wu, Cristopher Van Hout, Manuel AR Ferreira, Bin Ye, Alexander Li, Susannah Brydges, Vinayagam Arunachalam, Anthony Marcketta, Adam E Locke, Jonas Bovijn, Niek Verweij, Tanima De, Luca Lotta, Lyndon Mitnaul, Michelle LeBlanc, Regeneron Genetics Center, David J Carey, Olle Melander, Alan Shuldiner, Katia Karalis, Aris N Economides, Harikiran Nistala, DiscovEHR collaboration, Regeneron Genetics Center

Λήψη πλήρους κειμένου

Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction ανά Jiangming Sun, Yunpeng Wang, Lasse Folkersen, Yan Borné, Inge Amlien, Alfonso Buil, Marju Orho-Melander, Anders D. Børglum, David M. Hougaard, Regeneron Genetics Center, Olle Melander, Gunnar Engström, Thomas Werge, Kasper Lage

Λήψη πλήρους κειμένου

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes ανά Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi

Λήψη πλήρους κειμένου

Genetics of height and risk of atrial fibrillation: A Mendelian randomization study. ανά Michael G Levin, Renae Judy, Dipender Gill, Marijana Vujkovic, Shefali S Verma, Yuki Bradford, Regeneron Genetics Center, Marylyn D Ritchie, Matthew C Hyman, Saman Nazarian, Daniel J Rader, Benjamin F Voight, Scott M Damrauer

Λήψη πλήρους κειμένου

A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids ανά Leonida Hehl, Kate T. Creasy, Cecilia Vitali, Eleonora Scorletti, Katharina S. Seeling, Mara S. Vell, Miriam D. Rendel, Donna Conlon, Regeneron Genetics Center, Marijana Vujkovic, Inuk Zandvakili, Christian Trautwein, Kai M. Schneider, Daniel J. Rader, Carolin V. Schneider

Λήψη πλήρους κειμένου

Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort. ανά Daniel Hui, Shadi Mehrabi, Alexandra E Quimby, Tingfang Chen, Sixing Chen, Joseph Park, Binglan Li, Regeneron Genetics Center, Penn Medicine Biobank, Michael J Ruckenstein, Daniel J Rader, Marylyn D Ritchie, Jason A Brant, Douglas J Epstein, Iain Mathieson

Λήψη πλήρους κειμένου

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank ανά Noura S. Abul-Husn, Emily R. Soper, Jacqueline A. Odgis, Sinead Cullina, Dean Bobo, Arden Moscati, Jessica E. Rodriguez, CBIPM Genomics Team, Regeneron Genetics Center, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel, Eimear E. Kenny

Λήψη πλήρους κειμένου

Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies ανά Taylor B. Cavazos, Linda Kachuri, Rebecca E. Graff, Jovia L. Nierenberg, Khanh K. Thai, Stacey Alexeeff, Stephen Van Den Eeden, Douglas A. Corley, Lawrence H. Kushi, Regeneron Genetics Center, Thomas J. Hoffmann, Elad Ziv, Laurel A. Habel, Eric Jorgenson, Lori C. Sakoda, John S. Witte

Λήψη πλήρους κειμένου

Comprehensive association analysis of speech recognition thresholds after cisplatin‐based chemotherapy in survivors of adult‐onset cancer ανά Mohammad Shahbazi, Xindi Zhang, Paul C. Dinh, Victoria A. Sanchez, Matthew R. Trendowski, Megan M. Shuey, Tessa Nguyen, Regeneron Genetics Center, Darren R. Feldman, David J. Vaughn, Chunkit Fung, Christian Kollmannsberger, Neil E. Martin, Lawrence H. Einhorn, Nancy J. Cox, Robert D. Frisina, Lois B. Travis, Mary Eileen Dolan

Λήψη πλήρους κειμένου

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms ανά Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimee M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Regeneron Genetics Center, Geisinger-Regeneron DiscovEHR Collaboration, Aris Baras, Gregory Hinkle, Paul Nioi

Λήψη πλήρους κειμένου

MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. ανά Larry N Singh, Brian Ennis, Bryn Loneragan, Noah L Tsao, M Isabel G Lopez Sanchez, Jianping Li, Patrick Acheampong, Oanh Tran, Ian A Trounce, Yuankun Zhu, Prasanth Potluri, Regeneron Genetics Center, Beverly S Emanuel, Daniel J Rader, Zoltan Arany, Scott M Damrauer, Adam C Resnick, Stewart A Anderson, Douglas C Wallace

Λήψη πλήρους κειμένου

A large meta-analysis identifies genes associated with anterior uveitis ανά Sahar Gelfman, Arden Moscati, Santiago Mendez Huergo, Rujin Wang, Veera Rajagopal, Neelroop Parikshak, Vijay Kumar Pounraja, Esteban Chen, Michelle Leblanc, Ralph Hazlewood, Jan Freudenberg, Blerta Cooper, Ann J. Ligocki, Charles G. Miller, Tavé Van Zyl, Jonathan Weyne, Carmelo Romano, Botir Sagdullaev, Olle Melander, Aris Baras, Regeneron Genetics Center, Eli A. Stahl, Giovanni Coppola

Λήψη πλήρους κειμένου

Pharmacogenomics of cisplatin‐induced neurotoxicities: Hearing loss, tinnitus, and peripheral sensory neuropathy ανά Xindi Zhang, Matthew R. Trendowski, Emma Wilkinson, Mohammad Shahbazi, Paul C. Dinh, Megan M. Shuey, Regeneron Genetics Center, Darren R. Feldman, Robert J. Hamilton, David J. Vaughn, Chunkit Fung, Christian Kollmannsberger, Robert Huddart, Neil E. Martin, Victoria A. Sanchez, Robert D. Frisina, Lawrence H. Einhorn, Nancy J. Cox, Lois B. Travis, M. Eileen Dolan

Λήψη πλήρους κειμένου

Risk factors affecting polygenic score performance across diverse cohorts ανά Daniel Hui, Scott Dudek, Krzysztof Kiryluk, Theresa L Walunas, Iftikhar J Kullo, Wei-Qi Wei, Hemant Tiwari, Josh F Peterson, Wendy K Chung, Brittney H Davis, Atlas Khan, Leah C Kottyan, Nita A Limdi, Qiping Feng, Megan J Puckelwartz, Chunhua Weng, Johanna L Smith, Elizabeth W Karlson, Regeneron Genetics Center, Penn Medicine BioBank, Gail P Jarvik, Marylyn D Ritchie

Λήψη πλήρους κειμένου

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk ανά Ida Surakka, Lars G. Fritsche, Wei Zhou, Joshua Backman, Jack A. Kosmicki, Haocheng Lu, Ben Brumpton, Jonas B. Nielsen, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, Sarah E. Graham, Y. Eugene Chen, Seunggeun Lee, Hyun Min Kang, Arnulf Langhammer, Siri Forsmo, Bjørn O. Åsvold, Unnur Styrkarsdottir, Hilma Holm, Daniel Gudbjartsson, Kari Stefansson, Aris Baras, Regeneron Genetics Center, Goncalo R. Abecasis, Kristian Hveem, Cristen J. Willer

Λήψη πλήρους κειμένου

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults ανά Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, GHS-REGN DiscovEHR collaboration, Regeneron Genetics Center, Decibel-REGN collaboration, Olle Melander, Marcus B. Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan C. Drummond, Aris Baras, Goncalo R. Abecasis, Manuel A. Ferreira, Eli A. Stahl, Giovanni Coppola

Λήψη πλήρους κειμένου