Publication
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
Michael D. Kessler, Douglas P. Loesch, James A. Perry, Nancy L. Heard-Costa, Brian E. Cade, John Ziniti, Soma Datta, Juan C. Celedón, Manuel E. Soto-Quiros, Lydiana Avila, Scott T. Weiss, Susan S. Redline, Andrew D. Johnson, Rasika A. Mathias, James G. Wilson, Deborah A. Nickerson, Sharon R. Browning, Sebastian Zöllner, Jeffrey R. O’Connell, Timothy D. O’Connor, Sanne Aalbers, Moustafa Abdalla, Omar Abdul-Rahman, Gonçalo Abecasis, Avinash Abhyankar, Indra Adrianto, Francois Aguet, Rachel Akers, Rafet Al-Tobasei, Christine Albert, Micheala Aldred, Laura Almasy, Marcio Almeida, Alvaro Alonso, Seth Ament, Elizabeth Ampleford, Ping An, Christopher D. Anderson, Charlotte Andersson, Pramod Anugu, Elizabeth Appelbaum, Kristin Ardlie, Dan Arking, Sebastian M. Armasu, Donna K Arnett, Heather Arruda, Marios Arvanitis, Allison Ashley-Koch, Aneel Ashrani, Stella Aslibekyan, Tim Assimes, Elizabeth Atkinson, Paul Auer, Thomas R. Austin, Christy Avery, Julian Avila-Pacheco, Paul Avillach, Abraham Aviv, Dimitrios Avramopoulos, Christie Ballantyne, Pallavi Balte, Michael Bamshad, Mike Bancks, John Barnard, Kathleen Barnes, R. Graham Barr, Emily Barron-Casella, Traci Bartz, Lucas Barwick, Saonli Basu, Alexis Battle, Michael Baumann, Terri Beaty, Gerald Beck, Lewis Becker, Diane Becker, Rebecca Beer, Ferdouse Begum, Alexa Beiser, Amber Beitelshees, Emelia Benjamin, Takis Benos, Hanna Berk-Rauch, Zachary M Besich, Marcos Bezerra, Surya Bhatt, Wenjian Bi, Alexander Bick, Larry Bielak, Mary Lou Biggs, Joshua Bis, Thomas Blackwell, John Blangero, Eugene Bleecker, Brandon Blobner, Toby Bloom, Elizabeth Blue, Corneliu Bodea, Mike Boehnke, Eric Boerwinkle, Silvia Bonas, Donald W. Bowden, Russell Bowler, Jan Bressler, Jennifer Brody, Ulrich Broeckel, Jai Broome, Matthew Brown, Michael Brown, Brian Browning, Joseph Bundy, Esteban Burchard, Robert Burk, Carlos Bustamante, Erin Buth, Javed Butler, Brian Cade, Jonathan Cardwell, Vincent Carey, Jenna Carlson, Cara Carty, Richard Casaburi, James Casella, Peter Castaldi, Mark Chaffin, Jin Choul Chai, Aravinda Chakravarti, Nathalie Chami, Kei Hang, Katie Chan, I-Shou Chang, Christy Chang, Yi-Cheng Chang, Sinead Chapman, Daniel Chasman, Sameer Chavan Yii-Der, Ida Chen, Wei-Min Chen, Zhanghua Chen, Han Chen, Fang Chen, Shu Hui Chen, Ming-Huei Chen, Ye Chen, Susan Cheng, Yen-Feng Chiu, Michael Cho, Seung Hoan Choi, Zechen Chong, Jessica Chong, Ingrid Elisabeth Christophersen, Audrey Chu, Shih-Kai Chu, Lee-Ming Chuang, Sung Chun, Jaeyoon Chung, Mina Chung, Ren-Hua Chung, Mina Cintho, Ozahata Mete Civelek, Steven Claas, Robert Clark, Shoa Clarke, Melina Claussnitzer, Jean Rene Clemenceau, Clary Clish, Sean Coady, Bradley Coe, John Cole, Suzy Comhair, Brandon Coombes, Matthew Cordes, Laura Corlin, Elaine Cornell, Adolfo Correa, André Corvelo, Paul Courchesne, Laura Courtney, Carolyn Crandall, James Crapo, Damien Croteau-Chonka, Pedro Cruz, L. Adrienne Cupples, Joanne Curran, Jeffrey Curtis, Brian Custer, Michael Cutler, Coleen Damcott, Scott Damrauer, Dawood Darbar, Sean David, Warwick Daw, Paul de Vries, Michael DeBaun, Christopher Defilippi, Chris Delaney, Tracie DeLuca, Dawn DeMeo, Serkalem Demissie, Xutao Deng, Vimal Derebail, Pinkal Desai, Anita DeStefano, Scott Devine, Daniel DiCorpo, Carla Dinardo, Jingzhong Ding, Jun Ding, Jasmin Divers, Avantika Diwadkar, Harsha Doddapaneni, Huawei Dong, Margaret Mengmeng Du, Qing Duan, Shannon Dugan-Perez, Ravi Duggirala, Josee Dupuis, Jon Peter Durda, Susan Dutcher, Charles Eaton, Walter Eckalbar, Clara Ehrman, Evan Eichler, Lynette Ekunwe, Adel El Boueiz, Jennifer Elhawary, Patrick Ellinor, Amanda Elliott, Connor Emdin, Mary Emond, Celeste Eng, Serpil Erzurum, Tonu Esko, Luke Evans, Shaohua Fan, Fang Fang, Nauder Faraday, Charles Farber, David Fardo, Candace Farmer, Leanna Farnam, Diane Fatkin, Mary Feitosa, Adam Felsenfeld, Jean Feng, Mike Feolo, Lindsay Fernandez-Rhodes, Nicole Ferraro, Jorge Ferrer, Jessica Fetterman, Allison Fialkowski, Tasha Fingerlin, Annette Fitzpatrick, Jonathan Michael Flanagan, Jason Flannick, Katherine Fleck, Matthew Flickinger, Jose Florez, James Floyd, Bernard Fongang, Marilyn Foreman, Myriam Fornage, Cassandra Foster, Caroline Fox, Ervin Fox, Nora Franceschini, Alan Franklin, Chris Frazar, Amanda Fretts, Yi-Ping Fu, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Anna Furniss, Stacey Gabriel, Sarah Gagliano, Taliun Weiniu Gan, Santhi Ganesh, Andrea Ganna, Melissa Garcia, Lori Garman, Michael Garrett, Melanie Garrett, Nadine Gassner, William James Gauderman, Kyle Gaulton, Amadou Gaye, Sheila Gaynor, Brady Gaynor, Bruce Gelb, Xin Geng, Mark Geraci, Soren Germer, Robert Gerszten, Sina Gharib, Richard Gibbs, Lucas Gillenwater, Frank Gilliland, Mark Gladwin, David Glahn, Jennifer Godfrey, Ponce David Goff, Rahul Gondalia, Da-Wei Gong, Hector Gonzalez, Mark Goodarzi, Matthew Goodman, Victor Gordeuk, Harald Goring, Daniel Gottlieb, Jérôme Goudet, Misa Graff, Jan Graffelman, Sarah Graham, Penelope Graves, Sharon Graw, Nancy Green, Kelsey Grinde, Michael Griswold, Megan Grove, C. Charles Gu, Weihua Guan, Hongsheng Gui, Xiuqing Guo, Namrata Gupta, Mary Haas, Jeff Haessler, Yang Hai, Cassie Hajek, Hakon Hakonarson, Lauren Hale, Michael Hall, Amelia Weber Hall, Anne Hamik, Bob Handsaker, Sarah Hanks, Matthew Hansen, Manjit Hanspal, Luning Hao, Ross Hardison, Bernhard Haring, Natalie Hasbani, David Haussler, Nicola Hawley, Lystra Hayden, Kathleen Hayden, Jiang He, Karen He, Nancy Heard-Costa, Ben Heavner, Susan Heckbert, Julian Hecker, Megan Herndon, David Herrington, Craig Hersh, Bertha Hidalgo, Heather Highland, Blanca Himes, Joel Hirschhorn, Marie-France Hivert, James Hixson, Brian Hobbs, Chancellor Hohensee, John Hokanson, Charles Hong, Martha Horike-Pyne, Steve Horvath, Karin Hoth, Lifang Hou, Candace M. Howard-Claudio, Tzu-Hung Hsiao, Chao (Agnes) Hsiung, Wan-Ling Nicole Hsu, Lucy Hsu, Yi-Hsiang Hsu, Xiaowei Hu, Yao Hu, Tianxiao Huan, Jie Huang, Tianyi Huang, Benjamin Hubert, Jennifer Huffman, Timothy Hughes, Tae Hyun Hwang, Shih-Jen Hwang, Chii Min Hwu, Hyacinth Hyacinth, Hae Kyung Im, Marguerite Ryan Irvin, Carmen Isasi, Yuval Itan, Rebecca Jackson, Sidd Jaiswal, Seonkyeong Jang, Cashell Jaquish, Gail Jarvik, Thomas Jaworek, Paul Jensen, Min A Jhun, Xueqiu Jian, Yu Jiang, Roby Joehanes, Eric Johanson, Jill Johnsen, Craig Johnson, Michelle Jones, Kimberly Jones, Jaehyun Joo, Kizer Jorge, Aparacio Jose, Brian Joyce, Renae Judy, Goo Jun, Priyadarshini Kachroo, Ravi Kalhan, Jonathan Kaltman, Rita Kalyani, Kanika Kanchan, Divy Kangeyan, Robert Kaplan, David Karasik, Sharon Kardia, Silva Kasela, Sekar Kathiresan, Daniel H Katz, Katerina Kechris, Richard Keitch, Spencer Kelley, Rachel S. Kelly, Shannon Kelly, Eimear Kenny, Ali Keramati, Bryan Kestenbaum, Kevin Keys, Alyna Khan, Amit Khera, Minjung Kho, Muin Khoury, Douglas Kiel, Ryan Kim, Woori Kim, Wonji Kim, Eric Kim, Eileen King, Greg Kinney, Frederick Kinyua, Kamanu Krzysztof Kiryluk, Steven Kittner, Derek Klarin, Malgorzata Klauzinska, Erica Kleinbrink, Robert Klemmer, Stacey Knight, Emma Knowles, Darae Ko, Barbara Konkle, Charles Kooperberg, Anna Kottgen, Christina Kourkoulis, Aldi Kraja, Brian Kral, Holly Kramer, William Kraus, Michael Krause, Stephanie Krauter, Mohanraj Krishnan, Rajesh Kumar, Roy Kuraisa, Gulriz Kurban, Pui-Yan Kwok, Alain Laederach, Preeti Lakshman, Kumar Jacqueline Lane, John Lane, Christoph Lange, Ethan Lange, Leslie Lange, Tuuli Lappalainen, Caleb Lareau, Martin Larson, Katie Larsson, Edward Lau, Lenore Launer, Cecelia Laurie, Marie Lauzon, Suzanne Leal, Meryl LeBoff, David Lederer, Wen-Jane Lee, I-Te Lee, Seunggeun Shawn Lee, Seung-been Steven Lee, Eunice Lee, Christina Lee, Jiwon Lee, Grace Lee, Dongwon Lee, Jonathon LeFaive, Rozenn Lemaitre, Samantha Lent, Petra Lenzini, Aaron Leong, Guillaume Lettre, Albert Levin, David Levine, Dan Levy, Joshua Lewis, Yun Li, Huiqing Li, Xiaohui Li, Zilin Li, Xingnan Li, Xihao Li, Bingshan Li, Jingjing Liang, Elise Lim, Andrew Limper, Xihong Lin, Henry Lin, Honghuang Lin, Danyu Lin, Bridget Mengshan Lin, Amarise Little, Mengzhen Liu, Ching-Ti Liu, Yongmei Liu, Yaowu Liu, Delong Liu, Dajiang Liu, Chunyu Liu, Qing Liu, Jingmin Liu, Simin Liu, Adam Locke, Stephanie London, Michelle Long, Ryan Longchamps, Will Longstreth, Ruth Loos, Steven Lubitz, Kathryn Lunetta, James Luo, Sharon Lutz, Yanlin Ma, Purnema Madahar, Anubha Mahajan, Michael Mahaney, Joe Maher, Arch (Chip) Mainous, Timothy Majarian, Angel CY Mak, Rajeev Malhotra, Alisa Manning, JoAnn Manson, Sandro Marini, Lisa Martin, Fernando Martinez, Susan Mathai, Susanne May, Richard Mayeux, Patrick McArdle, Steve McCarroll, Mark McCarthy, Merry-Lynn McDonald, Barbara McDonough, Sean McFarland, Stephen McGarvey, Daniel McGoldrick, Daniel McGuire, Barbara McKnight, John McLenithan, David McManus, Tonya McSherry, Shannon Meeks, Hao Mei, James Meigs, Michael Mendelson, George Mensah, Josep Mercader, Tony Merriman, Geralyn Messerlian, Luisa Mestroni, Ginger Metcalf, Deborah A Meyers, Karen Miga, Anna Mikhaylova, Clint Miller, Nancy Min, Mollie Minear, Biswapriya Misra, Braxton D. Mitchell, Gary F. Mitchell, Deborah Moeller, Sanghamitra Mohanty, Karen Mohlke, Jean Monlong, May E. Montasser, Courtney Montgomery, Stephen Montgomery, Jee-Young Moon, Andrew Moran, Andrew Morris, Alanna C Morrison, Arden Moscati, Thomas Mosley, Joanne Murabito, Solomon Musani, Shaila Musharoff, Rajeeva Lochan Musunuri, Donna Muzny, Stanford Mwasongwe, Girish Nadkarni, Abhishek Nag, Rakhi Naik, Tetsushi Nakao, Hongmei Nan, Drew Nannini, Giuseppe Narzisi, Pradeep Natarajan, Anjali Nath, Matt Nayor, Benjamin Neale, Sergei Nekhai, Cheryl Nelson, Christopher Newton-Cheh, Maggie Ng, Debby Ngo, Jennifer Nguyen, Lan Nguyen, Jovia Nierenberg, Kari North, Seyed Mehdi Nouraie, Adam Novak, Diane Nugent, Paul Nyquist, Brian O'Connor, George O'Connor, Christopher O'Donnell, Christopher O'Sullivan, Heather Ochs-Balcom, Elizabeth Oelsner, Young S. Oh, Sam Oh, Michael Olivier, Nicholas Ollberding, Nels Olson, Jean L. Olson, Victor Ortega, Kevin Osborn, Jim Ostell, Jacqueline Otto, David Paik, Nicholette Palmer, Akhil Pampana, Anita Pandit, James Pankow, Nathan Pankratz, Yoson Park, Margaret Parker, Afshin Parsa, Jay Patel, Sanjay Patel, Aniruddh Patel, Benedict Paten, Candace Patterson, Gina Peloso, Juan Manuel, Peralta Alexandre, Pereira Marco Perez, James Perry, Ulrike Peters, Patricia Peyser, Nathan Pezant, Sam Phillips, Lawrence S Phillips, Steve Pipe, James Pirruccello, Achilleas Pitsillides, Craig Pohl, Linda Polfus, Toni Pollin, Bianca Porneala, Wendy Post, Julia Powers Becker, Katherine Pratte, Meher Preethi, Boorgula Michael Preuss, Jonathan Pritchard, Anna Prizment, Mike Province, Bruce Psaty, Shaun Purcell, Sandra Purves, Pankaj Qasba, Qibin Qi, Huijun Qian, Yong Qian, Dandi Qiao, Zhaohui Qin, Huiqi Qu, Corbin Quick, Daniel Rader, Nicholas Rafaels, Leslie Raffel, Laura Raffield, Dan Raftery, Sridharan Raghavan, Margaret F. Ragland, D.C. Rao, Laura Rasmussen-Torvik, Deepa Rastogi, Aakrosh Ratan, Debashree Ray, Susan Redline, Robert Reed, Elizabeth Regan, Amy D. Reily, Alex Reiner, Kathryn Rexrode, Jessica Rhodes, Ken Rice, Stephen Rich, Michiel Rienstra, Lauren Lee Rinke, Nicolas Robine, Cassianne Robinson-Cohen, Angela Rock, Dan Roden, Benjamin Andrew, Thomas Rodriguez, Annabelle Rodriguez, Kathryn (Kaye) Roll, Jonathan Rosand, Carolina Roselli, Yohei Rosen, Samantha Rosenthal, Ingo Ruczinski, Michael Rueschman, Alexander Runko, Emily Russell, Pamela Russell, Sarah Ruuska, Kathleen Ryan, Ester Cerdeira Sabino, Aniko Sabo, Nancy Saccone, Vandana Sachdev, Shivani Sahni, Phuwanat Sakornsakolpat, Danish Saleheen, Rany Salem, William Salerno, Shabnam Salimi, Juan Salomon-Andonie, Steven Salzberg, Jason L. Sanders, Kevin Sandow, Vijay Sankaran, Chloé Sarnowski, Claudia Satizabal, Gretchen Saunders, Richa Saxena, Gerard Schellenberg, Jenny Schoenberg, Charlene Schramm, Karen Schwander, Chip Schwartz, David Schwartz, Marvin Schwarz, Frank Sciurba, Jonathan Seidman, Christine Seidman, Elizabeth Selvin, Minseok Seo, Sudha Seshadri, Amanda Seyerle, Aladdin Shadyab, Sanjiv Shah, Palak Shah, Amitabh Sharma, Jessica R Shaw, Vivien Sheehan, Christopher John Sheldahl, Stephanie Sherman, Steve Sherry, Wayne Hui-Heng Sheu, Kevin Shianna, Daichi Shimbo, M. Benjamin Shoemaker, Phyliss Sholinsky, Meghan I Short, Lorraine Silsbee, Brian Silver, Edwin Silverman, Jeannette Simino, Noah Simon, Mortiz Sinner, Nasa Sinnott, Armstrong Colleen Sitlani, Robert Sladek, Patrick Sleiman, Craig Smail, Gustav Smith, Jennifer Smith, Benjamin Smith, Nicholas Smith, Josh Smith, Albert Vernon Smith, Sylvia Smoller, Soren Snitker, Beverly Snively, Michael Snyder, Sophie Sokolow, Karen Soldano, David Spies, Simon Spivack, Cassie Spracklen, Pothur Srinivas, Vinodh Srinivasasainagendra, Deepak Srivastava, David Steinberg, Debra Stern, Adrienne Stilp, Adam Stine, Nathan Stitziel, Elizabeth Streeten, Anne Sturcke, Jessica Lasky Su, Arvis Sulovari, Pavel Sumazin, Carly Summarell, Ryan Sun, Xiao Sun, Han Kevin Sun, Aishwarya Sundaresan, Yun Ju Sung, Ida Surakka, Takeki Suzuki, Mary Sweet, Mindy Szeto, Adam Szpiro, Carole Sztalryd, Daniel Taliun, Weihong Tang, Margaret Taub, Robert E Taylor, Matthew Taylor, Simeon Taylor, James G. Taylor, Bamidele Tayo VI, Marilyn Telen, James Gregory Terry, Elizabeth Thompson, Alastair Thomson, Bharat Thyagarajan, Adrienne Tin, Lesley Tinker, David Tirschwell, Sarah Tishkoff, Deirdre Tobias, Russell Tracy, Martin Tristani, Magan Trottier, Michael Tsai, Connie Tsao, David Van Den Berg, Mark Van Oene, Peter VandeHaar, Lisa VanWagner, Jose Vargas, Ramachandran S. Vasan, Karine A. Viaud, Martinez Peter Visscher, Ann Von, Holle Scott Vrieze, Michael Wagner, Jason Waligorski, Tarik Walker, Robert Wallace, Avram Walts, Emily Wan, Zhe Wang, Tao Wang, Fei Fei Wang, Biqi Becky Wang, Penglong Wang, Yanbing Wang, Fan Wang, Heming Wang, Karol Watson, Daniel E. Weeks, Gina Wei, Joshua Weinstock, Bruce Weir Scott, Weiss Fayuan Wen, Lu-Chen Weng, Ellen Werner, Jennifer Wessel, Marsha Wheeler, Marquitta White, Wendy White, Peter White, Nedra Whitehead, Kerri Wiggins, Cristen Willer, Charles Williams, Kayleen Williams, L. Keoki Williams, Scott Williams, Jessica Williams-Nguyen, James Wilson, Carla Wilson, Mary Kate Wing, Karen Winters, Mary Wojczynski, Brooke Wolford, Peitao Wu, Joseph Wu, Ann Wu, Lluvia Xia, Chunlin Xiao, Shujie Xiao, Hanfei Xu, Weiling Xu, Shujing Xu, Huichun Xu, Yu-Chung Yang, Chaojie Yang, Ivana Yang, Yuichiro Yano, Jie Yao, Eugene Yaschenko, Michelle Yau, Xianyong Yin, Sachiko Yoneyama, Bessie Young, Hannah Young, Kristin Young, Tracey Young, Kendra Young, Marston Youngblood, Bing Yu, Chaoyu Yu, Norann Zaghloul, Mira Zalokar-Newton, Habil Zare, Joe Zein, Maryam Zekavat, Grace Man Zhang, Wei Zhang, Xiaoyu Zhang, Ying Zhang, Jerry Zhang, Xinruo Zhang, Jingwen Zhang, Xu Zhang, Yingze Zhang, Snow Xueyan Zhao, Lue Ping Zhao, Xutong Zhao, Wei Zhao, Yinan Zheng, Xiuwen Zheng, Hufeng Zhou, Lisheng Zhou, Xiang Zhou, Yunyun Zhou, Luke Zhu, Xiaofeng Zhu, Barry Zorman, David Beame, Michael Bowers, Sharon Browning, Lavanya Challagundla, Matthew Conomos, Michelle Daya, Mariza de Andrade, Ranjan Deka, Ron Do, Leslie Emery, Laurent Francioli, Yan Gao, Steven Gazal, Stephanie Gogarten, Maria Gutierrez-Arcelus, Ira Hall, Daniel Harris, Kelley Harris, Kevin Hartman, Ryan Hernandez, Chani Hodonsky, Kruthika Raman Iyer, Deepti Jain, Jicai Jiang, Andrew Johnson, Rich Johnston, Daniel Jordan, Anne Justice, Hyun Min Kang, Addison Keely, Tanika Kelly, Michael Kessler, Cathy Laurie, Xiaoming Liu, Douglas Loesch, Yang Luo, Daniel MacArthur, Ani Manichaikul, Rasika Mathias, Caitlin McHugh, Julie Mikulla, Ryan L Minster, Josyf C Mychaleckyj, Rami Nassir, Sarah C. Nelson, Deborah Nickerson, Jeff O'Connell, Tim O'Connor, Grier Page, George Papanicolaou, Alkes Price, Dmitry Prokopenko, Jennifer Anne Purnell, Soumya Raychaudhuri, Jerome Rotter, Armin Schoech, Daniel Schrider, Vladimir Seplyarskiy, Amol Shetty, Tamar Sofer, Mashaal Sohail, Wei Song, Nona Sotoodehnia, Melissa Spear, Patrick Sullivan, Shamil R Sunyaev, Zachary Szpiech, Hua Tang, Kent D. Taylor, Timothy A. Thornton, Hemant Tiwari, Dominic Tong, Raul Torres, Dhananjay Vaidya, Marie Verbanck, Kate Wehr, Bruce Weir, Stephane Wenric, Quenna Wong, Lisa Yanek, Qiong Yang, Degui Zhi, Michael Zody, Sebastian Zoellner
Proceedings of the National Academy of Sciences, January 2020, Proceedings of the National Academy of Sciences
DOI: 10.1073/pnas.1902766117