Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

著者: Xihao Li, Zilin Li, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K. Arnett, Stella Aslibekyan, Christie M. Ballantyne, Lawrence F. Bielak, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jai Broome, Matthew P. Conomos, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, Barry I. Freedman, Xiuqing Guo, George Hindy, Marguerite R. Irvin, Sharon L. R. Kardia, Sekar Kathiresan, Alyna Khan, Charles Kooperberg, Cathy C. Laurie, X. Shirley Liu, Michael C. Mahaney, Ani Manichaikul, Lisa W. Martin, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, May E. Montasser, Jill E. Moore, Alanna C. Morrison, Jeffrey R. O’Connell, Nicholette D. Palmer, Akhil Pampana, Juan M. Peralta, Patricia A. Peyser, Bruce M. Psaty, Susan Redline, Kenneth Rice, Stephen S. Rich, Jennifer A. Smith, Hemant K. Tiwari, Michael Y. Tsai, Ramachandran S. Vasan, Fei Fei Wang, Daniel E. Weeks, Zhiping Weng, James G. Wilson, Lisa R. Yanek, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Dan Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Lawrence F. Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Cara L. Carty, Richard Casaburi, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Daniel I. Chasman, Sameer Chavan, Bo‐Juen Chen, Wei‐Min Chen, Yii‐Der Ida Chen, Michael H. Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren-Hua Chung, Clary B. Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Adolfo Correa, Carolyn Crandall, James D. Crapo, L. Adrienne Cupples, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sayantan Das, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Qing Duan, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie S. Emery, Serpil C. Erzurum, Charles R. Farber, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Bruce D. Gelb, Xiaoqi Geng, Mark W. Geraci, Søren Germer, Robert E. Gerszten, Auyon Ghosh, Richard A. Gibbs, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da‐Wei Gong, Harald H.H. Göring, Sharon Graw, Daniel Grine, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, Jeff Haessler, Michael Hall, Daniel Harris, Nicola L. Hawley, Jiang He, Susan R. Heckbert, Ryan D. Hernandez, David Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca Jackson, Deepti Jain, Cashell E. Jaquish, Min A. Jhun, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Sekar Kathiresan, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Wonji Kim, Gregory L. Kinney, Barbara A. Konkle, Charles L. Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Seunggeun Shawn Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Keng Han Lin, Xihong Lin, Simin Liu, Ching‐Ti Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, JoAnn E. Manson, Lauren Margolin, Lisa W. Martin, Susan Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Hao Mei, Luisa Mestroni, Deborah A. Meyers, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, May E. Montasser, Courtney G. Montgomery, Arden Moscati, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Deborah A. Nickerson, Kari E. North, Jeffrey R. O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, David T. Paik, Nicholette D. Palmer, James S. Pankow, George Papanicolaou, Afshin Parsa, Juan M. Peralta, Marco Pérez, James A. Perry, Ulrike Peters, Patricia A. Peyser, Lawrence S. Phillips, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Bruce M. Psaty, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura M. Raffield, Ramachandran S. Vasan, D. C. Rao, Laura J. Rasmussen‐Torvik, Aakrosh Ratan, Susan Redline, Robert D. Reed, Elizabeth A. Regan, Alex P. Reiner, Muagututi‘a Sefuiva Reupena, Kenneth Rice, Stephen S. Rich, Dan M. Roden, Carolina Roselli, Jerome I. Rotter, Ingo Ruczinski, Pamela Russell, Sarah Ruuska, Kathleen A. Ryan, Éster Cerdeira Sabino, Danish Saleheen, Shabnam Salimi, Steven L. Salzberg, Kevin Sandow, Vijay G. Sankaran, Christopher Scheller, Ellen M. Schmidt, Karen Schwander, David Schwartz, Frank C. Sciurba, Christine E. Seidman, Jonathan G. Seidman, Vivien Sheehan, Stephanie L. Sherman, Amol C. Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, B. Silver, Edwin K. Silverman, Jennifer A. Smith, J. G. Smith, Nicholas H. Smith, Tanja Smith, Sylvia Smoller, Beverly Snively, M Snyder, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Garrett Storm, Elizabeth A. Streeten, Jessica Lasky‐Su, Yun Ju Sung, Jody Sylvia, Adam A. Szpiro, Carole Sztalryd, Daniel Taliun, Hua Tang, Margaret A. Taub, Kent D. Taylor, Matthew R.G. Taylor, Simeon I. Taylor, Marilyn J. Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley F. Tinker, David Tirschwell, Sarah A. Tishkoff, Hemant K. Tiwari, Catherine Tong, Russell P. Tracy, Michael Y. Tsai, Dhananjay Vaidya, David Van Den Berg, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert B. Wallace, Avram Walts, Fei Fei Wang, Heming Wang, Karol Watson, Daniel E. Weeks, Bruce S. Weir, Scott L. Weiss, Lu‐Chen Weng, Jennifer Wessel, Cristen J. Willer, Kayleen Williams, L. Keoki Williams, Carla G. Wilson, James G. Wilson, Quenna Wong, Joseph C. Wu, Huichun Xu, Lisa R. Yanek, Ivana V. Yang, Rongze Yang, Norann Zaghloul, Maryam Zekavat, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Degui Zhi, Xiang Zhou, Xiaofeng Zhu, Michael C. Zody, Sebastian Zoellner, TOPMed Lipids Working Group, Moustafa Abdalla, Gonçalo R. Abecasis, Donna K. Arnett, Stella Aslibekyan, Tim Assimes, Elizabeth J. Atkinson, Christie M. Ballantyne, Amber L. Beitelshees, Lawrence F. Bielak, Joshua C. Bis, Corneliu Bodea, Eric Boerwinkle, Donald W. Bowden, Jennifer Brody, Brian E. Cade, Jenna C. Carlson, I-Shou Chang, Yii‐Der Ida Chen, Sung Chun, Ren-Hua Chung, Matthew P. Conomos, Adolfo Correa, L. Adrienne Cupples, Coleen Damcott, Paul S. de Vries, Ron Do, Amanda Elliott, Mao Fu, Andrea Ganna, Da‐Wei Gong, Sarah E. Graham, Mary E. Haas, Bernhard Haring, Jiang He, Susan R. Heckbert, Blanca E. Himes, James E. Hixson, Marguerite R. Irvin, Deepti Jain, Gail P. Jarvik, Min A. Jhun, Jicai Jiang, Goo Jun, Rita R. Kalyani, Sharon L. R. Kardia, Sekar Kathiresan, Amit V. Khera, Derek Klarin, Charles L. Kooperberg, Brian G. Kral, Leslie Lange, Cathy C. Laurie, Cecelia Laurie, Rozenn N. Lemaître, Zilin Li, Xihao Li, Xihong Lin, Michael C. Mahaney, Ani Manichaikul, Lisa W. Martin, Rasika A. Mathias, Ravi Mathur, Stephen T. McGarvey, Caitlin McHugh, John C. McLenithan, Julie Mikulla, Braxton D. Mitchell, May E. Montasser, Andrew E. Moran, Alanna C. Morrison, Tetsushi Nakao, Pradeep Natarajan, Deborah A. Nickerson, Kari E. North, Jeffrey R. O’Connell, Christopher J. O’Donnell, Nicholette D. Palmer, Akhil Pampana, Aniruddh P. Patel, Gina M. Peloso, James A. Perry, Ulrike Peters, Patricia A. Peyser, James P. Pirruccello, Toni I. Pollin, Michael Preuß, Bruce M. Psaty, D. C. Rao, Susan Redline, Robert D. Reed, Alex P. Reiner, Stephen S. Rich, Samantha L. Rosenthal, Jerome I. Rotter, Jenny Schoenberg, Margaret Sunitha Selvaraj, Wayne Hui-Heng Sheu, Jennifer A. Smith, Tamar Sofer, Adrienne M. Stilp, Shamil Sunyaev, Ida Surakka, Carole Sztalryd, Hua Tang, Kent D. Taylor, Michael Y. Tsai, Md Mesbah Uddin, Sarah Urbut, Marie Verbanck, Ann Von Holle, Heming Wang, Fei Fei Wang, Kerri L. Wiggins, Cristen J. Willer, James G. Wilson, Brooke N. Wolford, Huichun Xu, Lisa R. Yanek, Norann Zaghloul, Maryam Zekavat, Jingwen Zhang, Benjamin M. Neale, Shamil Sunyaev, Gonçalo R. Abecasis, Jerome I. Rotter, Cristen J. Willer, Gina M. Peloso, Pradeep Natarajan, Xihong Lin - Nature Genetics 2020 被引用: 290