Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

por Connor A. Emdin, Amit V. Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M. Zekavat, Akihiro Nomura, Diego Ardissino, James G. Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J. Bown, Nilesh J. Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H. Lichtman, Gail D’Onofrio, Jennifer Mattera, John A. Spertus, Wayne H.-H. Sheu, Kent D. Taylor, Bruce M. Psaty, Stephen S. Rich, Wendy Post, Jerome I. Rotter, Yii-Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
Publicado 2018

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixe...

por Madeline H Kowalski, Huijun Qian, Ziyi Hou, Jonathan D Rosen, Amanda L Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K Arnett, Christy Avery, Kathleen C Barnes, Lewis C Becker, Stephanie A Bien, Joshua C Bis, John Blangero, Eric Boerwinkle, Donald W Bowden, Steve Buyske, Jianwen Cai, Michael H Cho, Seung Hoan Choi, Hélène Choquet, L Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S de Vries, Patrick T Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R Heckbert, Bertha Hidalgo, Chani J Hodonsky, Marguerite R Irvin, Andrew D Johnson, Eric Jorgenson, Robert Kaplan, Sharon L R Kardia, Tanika N Kelly, Charles Kooperberg, Jessica A Lasky-Su, Ruth J F Loos, Steven A Lubitz, Rasika A Mathias, Caitlin P McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C Morrison, Nicholette D Palmer, Nathan Pankratz, George J Papanicolaou, Juan M Peralta, Patricia A Peyser, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Jennifer A Smith, Nicholas L Smith, Kent D Taylor, Timothy A Thornton, Hemant K Tiwari, Russell P Tracy, Tao Wang, Scott T Weiss, Lu-Chen Weng, Kerri L Wiggins, James G Wilson, Lisa R Yanek, Sebastian Zöllner, Kari E North, Paul L Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M Raffield, Alexander P Reiner, Yun Li
Publicado 2019