D. Landwehr, RM Klose, Gerhard Giebisch,
... and NBC3 but not NBC1Tae-Hwan Kwon, Christiaan Fulton, Weidong Wang, Ira Kurtz, Jørgen Frøkiær, Christian Aalkjær, and Søren Nielsen1 February 2002 | American Journal of Physiology-Renal ...
Tópico(s): Renal function and acid-base balance
1967 - American Physiological Society | American Journal of Physiology-Legacy Content
... and NBC3 but not NBC1Tae-Hwan Kwon, Christiaan Fulton, Weidong Wang, Ira Kurtz, Jørgen Frøkiær, Christian Aalkjær, and Søren Nielsen1 February 2002 | American Journal of Physiology-Renal ...
Tópico(s): Renal function and acid-base balance
1990 - American Physiological Society | Physiological Reviews
Tae‐Hwan Kwon, Christiaan Fulton, Weidong Wang, Ira Kurtz, Jørgen Frøkiær, Christian Aalkjær, Søren Nielsen,
Several members of the Na-HCO cotransporter (NBC) family have recently been identified functionally and partly characterized, including rkNBC1, NBCn1, and NBC3. Regulation of these NBCs may play a role in the maintenance of intracellular pH and in the regulation of renal acid-base balance. However, it is unknown whether the expressions of these NBCs are regulated in response to changes in acid-base status. We therefore tested whether chronic metabolic acidosis (CMA) affects the abundance of these ...
Tópico(s): Electrolyte and hormonal disorders
2002 - American Physical Society | AJP Renal Physiology
Henrik Vorum, Tae‐Hwan Kwon, Christiaan Fulton, Brian Simonsen, Inyeong Choi, Walter F. Boron, Arvid B. Maunsbach, Søren Nielsen, Christian Aalkjær,
An electroneutral Na-HCO 3 − cotransporter (NBC N 1) was recently cloned, and Northern blot analyses indicated its expression in rat kidney. In this study, we determined the cellular and subcellular localization of NBC N 1 in the rat kidney at the light and electron microscopic level. A peptide-derived antibody was raised against the COOH-terminal amino acids of NBC N 1. The affinity-purified antibody specifically recognized one band, ∼180 kDa, in rat kidney membranes. Peptide- N-glycosidase F deglycosylation ...
Tópico(s): Renal function and acid-base balance
2000 - American Physical Society | AJP Renal Physiology
Chloé Sarnowski, Claudia L. Satizábal, Charles DeCarli, Achilleas Pitsillides, L. Adrienne Cupples, Ramachandran S. Vasan, James G. Wilson, Joshua C. Bis, Myriam Fornage, Alexa S. Beiser, Anita L. DeStefano, Josée Dupuis, Sudha Seshadri, Donna K. Arnett, Diane M. Becker, Joshua C. Bis, Eric Boerwinkle, Michael Bowers, Jan Bressler, Adolfo Correa, Anita L. DeStefano, Jingzhong Ding, David W. Fardo, Myriam Fornage, Alex Lugo, David C. Glahn, Hector M. González, Kathleen M. Hayden, Susan R. Heckbert, Karin F. Hoth, Timothy M. Hughes, Cashell E. Jaquish, Xueqiu Jian, Emma Knowles, Lenore J. Launer, Honghuang Lin, W. T. Longstreth, Richard Mayeux, Biswapriya B. Misra, Thomas H. Mosley, Paul Nyquist, Michael Olivier, Emmanuel Peprah, Bruce M. Psaty, Shaun Purcell, Jerome I. Rotter, Chloé Sarnowski, Claudia L. Satizábal, Gerard D. Schellenberg, Sudha Seshadri, Jeannette Simino, Jennifer A. Smith, Sylvia Smoller, Beverly Snively, Sophie Sokolow, Kate Wehr, Lisa R. Yanek, Qiong Yang, Abe Namiko, Abecasis Goncalo, Albert Christine, Allred Nicholette Palmer, Almasy Laura, Alvaro Alonso, Ament Seth, Anderson Peter, Anugu Pramod, A. Nickerson Deborah, Arking Dan, Arnett Donna K, Ashley-Koch Allison, Aslibekyan Stella, A Bruckner Tim, Auer Paul, Avramopoulos Dimitrios, John Barnard, Barnes Kathleen, Barr R. Graham, Barron-Casella Emily, Beaty Terri, Becker M Diane, Becker Lewis, Beer Rebecca, Begum Ferdouse, Beitelshees Amber, Benjamin Emelia, Bezerra Marcos, Bielak Larry, B. Benoit Joshua, Blackwell Thomas, Blangero John, Boerwinkle Eric, Ingrid Borecki, Russell Bowler, Brody Jennifer, Broeckel Ulrich, Broome Jai, Bunting Karen, Burchard Esteban, Cardwell Jonathan, C Graves Sara, Carty Cara, Casaburi Richard, Casella James, Chaffin Mark, Chang Christy, Chasman Daniel, Chavan Sameer, Chen Bo-Juen, Weimin Chen, Chen Yii-Der Ida, Cho Michael, Choi Seung Hoan, Chuang Lee-Ming, Chung Mina, C. Davis Elaine, Adolfo Correa, Carolyn Crandall, Crapo James, Cupples L Adrienne, Joanne E. Curran, Curtis Jeffrey, C. Healy Brian, Damcott Coleen, Darbar Dawood, Sayantan Das, Sean P. David, Davis Colleen, Daya Michelle de Andrade Mariza, D. Nissen Michael, Ranjan Deka, DeMeo Dawn, Devine Scott, Do Ron, Duan Qing, Duggirala Ravi, Durda Peter, D. Arden Susan, Eaton Charles, Ekunwe Lynette, E. Canlas Patrick, Emery Leslie, Farber Charles, Farnam Leanna, Fingerlin Tasha, Flickinger Matthew, Fornage Myriam, Franceschini Nora, Mao Fu, Fullerton Malia, Fulton Lucinda, G. Stacey, Gan Weiniu, Yan Gao, Margery Gass, Geng Xiaoqi, Germer Soren, Gignoux Chris, Gladwin Mark, Glahn David, G C Kroeze Stephanie, Gong Dawei, Goring Harald, G. Charles, Yue Guan, Guo Xiu-qing, Haessler Jeff, Hall Michael, Harris Daniel, Hawley Nicola, He Jiang, Heavner Ben, Heckbert Susan, Hernandez Ryan, Herrington David, Hersh Craig, Hidalgo Bertha, Hixson James, H. Gilmore John, Hong Elliott, Hoth Karin, Hsiung Chao, Huston Haley, Hwu Chii Min, Irvin Marguerite Ryan, Jackson Rebecca, Deepti Jain, Jaquish Cashell, Jhun Min A, Johnsen Jill, Johnson Andrew, Johnson Craig, Johnston Rich, J Johnson Kimberly, Kang Hyun Min, Robert Kaplan, Kardia Sharon, Sekar Kathiresan, Kaufman Laura, Kelly Shannon, Kenny Eimear, Kessler Michael, Khan Alyna, Kinney Greg, K Felber Barbara, Kooperberg Charles, Kramer Holly, Krauter Stephanie, Lange Christoph, L Miller Ethan, Lange Leslie, Laurie Cathy, Laurie Cecelia, LeBoff Meryl, Lee Seunggeun Shawn, Lee Wen-Jane, LeFaive Jonathon, Levine David, Levy Dan, Lewis Joshua, Yun Li, Lin Honghuang, Lin Keng Han, Liu Si-Min, Liu Yongmei, L. S. Ruth, Lubitz Steven, L. Lunetta Kathryn, L James, Mahaney Michael, Make Barry, Ani Manichaikul, Manson JoAnn, M Robinson Lauren, Martin Lisa, Mathai Susan, Mathias Rasika, M. Gaffney Patrick, McDonald Merry-Lynn, M. Murray Seán, M. Schwartz Stephen, Hao Mei, Meyers Deborah A, M. Cridland Julie, M. Sawtell Nancy, Minear Mollie, Minster Ryan L, Mitchell Braxton, Montasser May E, Musani Solomon, Mwasongwe Stanford, M. C., Nadkarni Girish, N K Rakhi, Natarajan Pradeep, Sergei Nekhai, Nickerson Deborah, North Kari, O'Connell Jeff, O'Connor Tim, Ochs-Balcom Heather, James S. Pankow, Papanicolaou George, Parker Margaret, Parsa Afshin, Pattison Jessica Tangarone, Penchev Sara, Peralta Juan Manuel, Perez Marco, Perry James, Ulrike Peters, P. Smith Patricia, Phillips Larry, Phillips Sam, Pollin Toni, Post Wendy, Powers Becker Julia, Preethi Boorgula Meher, M. Preuss, Prokopenko Dmitry, Psaty Bruce, Qasba Pankaj, Qiao Dandi, Qin Zhao-hui, Rafaels Nicholas, Raffield Laura, Ramachandran S. Vasan, D. C. Rao, Rasmussen-Torvik Laura, Aakrosh Ratan, R. Heckbert Susan, Reed Robert, R. Smith Elizabeth, Reiner Alex, R. Bracke Ken, R. C. Stephen,
We sought to identify rare variants influencing brain imaging phenotypes in the Framingham Heart Study by performing whole genome sequence association analyses within the Trans-Omics for Precision Medicine Program.We performed association analyses of cerebral and hippocampal volumes and white matter hyperintensity (WMH) in up to 2,180 individuals by testing the association of rank-normalized residuals from mixed-effect linear regression models adjusted for sex, age, and total intracranial volume ...
Lippincott Williams & Wilkins
Pradeep Natarajan, Gina M. Peloso, Seyedeh M. Zekavat, May E. Montasser, Andrea Ganna, Mark Chaffin, Amit V. Khera, Wei Zhou, Jonathan M. Bloom, J Engreitz, Jason Ernst, Jeffrey R. O’Connell, Sanni Ruotsalainen, Maris Alver, Ani Manichaikul, W. Craig Johnson, James A. Perry, Timothy Poterba, Cotton Seed, Ida Surakka, Tõnu Esko, Samuli Ripatti, Veikko Salomaa, Adolfo Correa, Ramachandran S. Vasan, Manolis Kellis, Benjamin M. Neale, Eric S. Lander, Gonçalo R. Abecasis, Braxton D. Mitchell, Stephen S. Rich, James G. Wilson, L. Adrienne Cupples, Jerome I. Rotter, Cristen J. Willer, Sekar Kathiresan, Namiko Abe, Christine M. Albert, Nicholette Palmer Allred, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, J. A. Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Terri H. Beaty, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Ferdouse Begum, Amber L. Beitelshees, Emelia J. Benjamin, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Ingrid B. Borecki, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Esteban Burchard, Jonathan Cardwell, Cara L. Carty, Richard Casaburi, James F. Casella, Christy 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, Elaine Cornell, Carolyn Crandall, James D. Crapo, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sayantan Das, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Ron Do, Qing Duan, Ravi Duggirala, Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Patrick T. Ellinor, Leslie Emery, Charles R. Farber, Leanna Farnam, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Mao Fu, M Fullerton, Lucinda A. Fulton, Stacey Gabriel, Weiniu Gan, Yan Gao, Margery Gass, Bruce D. Gelb, Xiaoqi Geng, Søren Germer, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da‐Wei Gong, Harald H.H. Göring, C. Charles Gu, Yue Guan, Xiuqing Guo, Jeff Haessler, Michael E. Hall, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, John S. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca Jackson, Deepti Jain, Cashell E. Jaquish, Min A. Jhun, Jill M. Johnsen, Andrew D. Johnson, Rich Johnston, Kimberly Marie Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Laura J. Kaufman, Shannon Kelly, Eimear E. Kenny, Michael Kessler, Alyna Khan, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Stephanie Krauter, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Seunggeun Shawn Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Daniel Levy, Joshua R. Lewis, Yun Li, Honghuang Lin, Keng Han Lin, Simin Liu, Yongmei Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Michael C. Mahaney, Barry J. Make, JoAnn E. Manson, Lauren Margolin, Lisa W. Martin, Susan K. Mathai, Rasika A. Mathias, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Hao Mei, Deborah A. Meyers, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Sergeï Nekhai, Deborah A. Nickerson, Kari North, Tim O’Connor, Heather M. Ochs‐Balcom, James S. Pankow, George Papanicolaou, Margaret M. Parker, Afshin Parsa, Sara Penchev, Juan M. Peralta, Marco Perez, Annette Peters, Patricia A. Peyser, Larry Phillips, Sam Phillips, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Dmitry Prokopenko, Bruce M. Psaty, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura M. Raffield, D. C. Rao, Laura J. Rasmussen‐Torvik, Aakrosh Ratan, Susan Redline, Robert D. Reed, Elizabeth Regan, Alex P. Reiner, Kenneth Rice, Dan M. Roden, Carolina Roselli, Ingo Ruczinski, Pamela Russell, Sarah Ruuska, Kathleen A. Ryan, Phuwanat Sakornsakolpat, Shabnam Salimi, Steven L. Salzberg, Kevin Sandow, Vijay G. Sankaran, Ellen M. Schmidt, Karen Schwander, David B. Schwartz, Frank C. Sciurba, Christine E. Seidman, Vivien A. Sheehan, Amol C. Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, Brian Silver, Edwin K. Silverman, Jennifer A. Smith, Josh Smith, Nicholas L. Smith, Tanja Smith, Sylvia Smoller, Beverly M. Snively, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Elizabeth A. Streeten, Yan V. Sun, Jody Sylvia, Adam A. Szpiro,
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative traits-plasma total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, and triglycerides. Common variant association yields known loci except for few variants previously poorly imputed. Rare coding variant association ...
Nature Portfolio
Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, J Engreitz, Gina M. Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A. Ryan, Mao Fu, W. Craig Johnson, Michael Tsai, Matthew J. Budoff, Ramachandran S. Vasan, L. Adrienne Cupples, Jerome I. Rotter, Stephen S. Rich, Wendy S. Post, Braxton D. Mitchell, Adolfo Correa, Andres Metspalu, James G. Wilson, Veikko Salomaa, Manolis Kellis, Mark J. Daly, Benjamin M. Neale, Steven McCarroll, Ida Surakka, Tõnu Esko, Andrea Ganna, Samuli Ripatti, Sekar Kathiresan, Pradeep Natarajan, Namiko Abe, Gonçalo R. Abecasis, Christine M. Albert, Nicholette Palmer Allred, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan E. 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, Terri H. Beaty, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Ferdouse Begum, Amber L. Beitelshees, Emelia J. Benjamin, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Ingrid B. Borecki, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Esteban G. Burchard, Jonathan Cardwell, Cara L. Carty, Richard Casaburi, James F. Casella, Christy Chang, Daniel I. Chasman, Sameer Chavan, Bo-Juen Chen, Wei‐Min Chen, Yii-Der Ida Chen, Michael Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Elaine Cornell, Carolyn Crandall, James D. Crapo, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sayantan Das, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Ron Do, Qing Duan, Ravi Duggirala, Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Patrick T. Ellinor, Leslie Emery, Charles R. Farber, Leanna Farnam, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Yan Gao, Margery Gass, Bruce D. Gelb, Xiaoqi Geng, Søren Germer, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da-Wei Gong, Harald H.H. Göring, C. Charles Gu, Yue Guan, Xiuqing Guo, Jeff Haessler, Michael E. Hall, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Min A. Jhun, Jill M. Johnsen, Andrew D. Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Laura J. Kaufman, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Stephanie Krauter, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Seunggeun Shawn Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Yun Li, Honghuang Lin, Keng Han Lin, Simin Liu, Yongmei Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Michael C. Mahaney, Barry J. Make, JoAnn E. Manson, Lauren Margolin, Lisa W. Martin, Susan K. Mathai, Rasika A. Mathias, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Hao Mei, Deborah A. Meyers, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, May E. Montasser, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Sergeï Nekhai, Deborah A. Nickerson, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, James S. Pankow, George Papanicolaou, Margaret M. Parker, Afshin Parsa, Sara Penchev, Juan M. Peralta, Marco Pérez, James A. Perry, Ulrike Peters, Patricia A. Peyser, Larry Phillips, Sam Phillips, Toni I. Pollin, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Dmitry Prokopenko, Bruce M. Psaty, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura M. Raffield, D. C. Rao, Laura J. Rasmussen‐Torvik, Aakrosh Ratan, Susan Redline, Robert M. Reed, Elizabeth A. Regan, Alex P. Reiner, Kenneth Rice, Dan M. Roden, Carolina Roselli, Ingo Ruczinski, Pamela Russell, Sarah Ruuska, Phuwanat Sakornsakolpat, Shabnam Salimi, Steven L. Salzberg, Kevin Sandow, Vijay G. Sankaran, Christopher Scheller, Ellen M. Schmidt, Karen Schwander, David A. Schwartz, Frank C. Sciurba, Christine E. Seidman, Vivien A. Sheehan, Amol C. Shetty, Aniket Shetty, Wayne H.-H. Sheu, M. Benjamin Shoemaker, B. Silver, Edwin K. Silverman, Jennifer A. Smith, J. G. Smith, Nicholas L. Smith, Tanja Smith, Sylvia Smoller, Beverly Snively, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp,
Abstract Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA , and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use deep-coverage whole genome sequencing in 8392 individuals of European and African ancestry to discover and interpret both single-nucleotide variants and copy number (CN) variation associated with Lp(a). We observe that genetic determinants ...
Nature Portfolio
Brian E. Cade, Jiwon Lee, Tamar Sofer, Heming Wang, Man Zhang, Han Chen, Sina A. Gharib, Daniel J. Gottlieb, Xiuqing Guo, Jacqueline M. Lane, Jingjing Liang, Xihong Lin, Hao Mei, Sanjay R. Patel, Shaun Purcell, Richa Saxena, Neomi Shah, Daniel S. Evans, Craig L. Hanis, David R. Hillman, Sutapa Mukherjee, Lyle J. Palmer, Katie L. Stone, Gregory J. Tranah, Namiko Abe, Gonçalo R. Abecasis, Christine M. Albert, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter H. Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, J. A. Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Terri Beaty, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Ferdouse Begum, Amber L. Beitelshees, Emelia J. Benjamin, Marcos Bezerra, Larry Bielak, Joshua Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Ingrid Borecki, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Esteban G. Burchard, Brian E. Cade, Jonathan Cardwell, Cara L. Carty, Richard Casaburi, James F. Casella, Mark Chaffin, Christy 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, 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, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Ron Do, Qing Duan, Ravi Duggirala, Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Patrick T. Ellinor, Leslie Emery, Charles R. Farber, Leanna Farnam, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Yan Gao, Margery Gass, Bruce D. Gelb, Xiaoqi Geng, Søren Germer, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da‐Wei Gong, Harald H.H. Göring, C. Charles Gu, Yue Guan, Xiuqing Guo, Jeff Haessler, Michael E. Hall, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, John S. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Min A. Jhun, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Marie Jones, Hyun Min Kang, Robert C. Kaplan, Sharon Kardia, Sekar Kathiresan, Laura J. Kaufman, Shannon Kelly, Eimear Kenny, Michael Kessler, Alyna Khan, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Stephanie Krauter, 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, Yun Li, Honghuang Lin, Keng Han Lin, Xihong Lin, Simin Liu, Yongmei Liu, Ruth J. F. Loos, Steven Lubitz, Kathryn L. Lunetta, James Luo, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Jo Ann E. Manson, Lauren Margolin, Lisa W. Martin, Susan K. Mathai, Rasika A. Mathias, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Hao Mei, Deborah A. Meyers, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, May E. Montasser, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Deborah A. Nickerson, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, Nicholette D. Palmer, James S. Pankow, George Papanicolaou, Margaret M. Parker, Afshin Parsa, Sara Penchev, Juan M. Peralta, Marco Perez, James A. Perry, Ulrike Peters, Patricia A. Peyser, Lawrence S. Phillips, Sam Phillips, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher P. Boorgula, Michael Preuß, Dmitry Prokopenko, Bruce M. Psaty, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura M. Raffield, 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 Roden, Carolina Roselli, Jerome I. Rotter, Ingo Ruczinski, Pamela Russell, Sarah Ruuska, Kathleen A. Ryan, Phuwanat Sakornsakolpat, Shabnam Salimi, Steven L. Salzberg, Kevin Sandow, Vijay G. Sankaran, Christopher Scheller, Ellen M. Schmidt, Karen Schwander, David A. Schwartz, Frank C. Sciurba, Christine E. Seidman, Jonathan G. Seidman, Vivien A. Sheehan, Amol C. Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, B. Silver, Edwin K. Silverman, Jennifer A. Smith, J. G. Smith, Nicholas L. Smith,
Abstract Background Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we performed the first whole-genome sequence analysis of sleep-disordered breathing. Methods The study sample was comprised of 7988 individuals of diverse ancestry. Common-variant and pathway analyses included an additional 13,257 individuals. ...
BioMed Central
Carol C. Cheung, Corrado D’Arrigo, Manfred Dietel, Glenn Francis, Regan Fulton, C. Blake Gilks, Jacqueline A. Hall, Jason L. Hornick, Merdol Ibrahim, Antonio Marchetti, Keith Miller, J. Han van Krieken, Søren Nielsen, Paul E. Swanson, Clive R. Taylor, Mogens Vyberg, Xiaoge Zhou, Emina Torlakovic,
The numbers of diagnostic, prognostic, and predictive immunohistochemistry (IHC) tests are increasing; the implementation and validation of new IHC tests, revalidation of existing tests, as well as the on-going need for daily quality assurance monitoring present significant challenges to clinical laboratories. There is a need for proper quality tools, specifically tissue tools that will enable laboratories to successfully carry out these processes. This paper clarifies, through the lens of laboratory ...
Tópico(s): Molecular Biology Techniques and Applications
2016 - Lippincott Williams & Wilkins | Applied immunohistochemistry & molecular morphology
Alexander G. Bick, Joshua S. Weinstock, Satish K. Nandakumar, Charles P. Fulco, Erik L. Bao, Seyedeh M. Zekavat, Mindy D Szeto, Xiaotian Liao, Matthew Leventhal, Joseph Nasser, Kyle Chang, Cecelia Laurie, Bala Bharathi Burugula, Christopher J. Gibson, Abhishek Niroula, Amy Lin, Margaret A. Taub, François Aguet, Kristin Ardlie, Braxton D. Mitchell, Kathleen C. Barnes, Arden Moscati, Myriam Fornage, Susan Redline, Bruce M. Psaty, Edwin K. Silverman, Scott T. Weiss, Nicholette D. Palmer, Ramachandran S. Vasan, Esteban G. Burchard, Sharon L. R. Kardia, Jiang He, Robert C. Kaplan, Nicholas L. Smith, Donna K. Arnett, David A. Schwartz, Adolfo Correa, Mariza de Andrade, Xiuqing Guo, Barbara A. Konkle, Brian Custer, Juan M. Peralta, Hongsheng Gui, Deborah A. Meyers, Stephen T. McGarvey, Ida Yii-Der Chen, M. Benjamin Shoemaker, Patricia A. Peyser, Jai Broome, Stephanie M. Gogarten, Fei Fei Wang, Quenna Wong, May E. Montasser, Michelle Daya, Eimear E. Kenny, Kari E. North, Lenore J. Launer, Brian E. Cade, Joshua C. Bis, Michael H. Cho, Jessica Lasky‐Su, Donald W. Bowden, L. Adrienne Cupples, Angel C. Y. Mak, Lewis C. Becker, Jennifer A. Smith, Tanika N. Kelly, Stella Aslibekyan, Susan R. Heckbert, Hemant K. Tiwari, Ivana V. Yang, John A. Heit, Steven A. Lubitz, Jill M. Johnsen, Joanne E. Curran, Sally E. Wenzel, Daniel E. Weeks, D. C. Rao, Dawood Darbar, Jee‐Young Moon, Russell P. Tracy, Erin Buth, Nicholas Rafaels, Ruth J. F. Loos, Peter Durda, Yongmei Liu, Lifang Hou, Jiwon Lee, Priyadarshini Kachroo, Barry I. Freedman, Daniel Levy, Lawrence F. Bielak, James E. Hixson, James S. Floyd, Eric A. Whitsel, Patrick T. Ellinor, Marguerite R. Irvin, Tasha E. Fingerlin, Laura M. Raffield, Sebastian M. Armasu, Marsha M. Wheeler, Éster Cerdeira Sabino, John Blangero, Lawrence K. Williams, Bruce D. Levy, Wayne Huey‐Herng Sheu, Dan M. Roden, Eric Boerwinkle, JoAnn E. Manson, Rasika A. Mathias, Pinkal Desai, Kent D. Taylor, Andrew D. Johnson, Namiko Abe, Christine M. Albert, Laura Almasy, Alvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan Arking, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Dimitrios Avramopoulos, John Barnard, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri Beaty, Gerald J. Beck, Diane M. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, P.V. Benos, Marcos Bezerra, Larry Bielak, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Karen Bunting, Carlos D. Bustamante, 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, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Elaine Cornell, Carolyn Crandall, James D. Crapo, Jeffrey L. Curtis, Coleen Damcott, Sayantan Das, Sean P. David, Colleen Davis, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Qing Duan, Ravi Duggirala, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Matthew Flickinger, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda A. 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, Da‐Wei Gong, Harald H.H. Göring, Sharon Graw, Daniel Grine, C. Charles Gu, Yue Guan, Namrata Gupta, Jeff Haessler, Michael E. Hall, Daniel Harris, Nicola L. Hawley, Ben Heavner, Ryan D. Hernandez, David Herrington, Craig P. Hersh, Bertha Hidalgo, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Min A. Jhun, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Shannon Kelly, Michael Kessler, Alyna Khan, Wonji Kim, Gregory L. Kinney, Holly Kramer, Christoph Lange, Meryl S. LeBoff, Seunggeun Shawn Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Keng Han Lin, Xihong Lin, Simin Liu, Yu Liu, Kathryn L. Lunetta, James Luo, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Lauren Margolin, Lisa Martin, Susan K. Mathai, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Daniel McGoldrick, Caitlin McHugh, Hao Mei, Luisa Mestroni, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Matt Moll, Courtney G. Montgomery, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Deborah A. Nickerson, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, David T. Paik, James S. Pankow, George Papanicolaou,
Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently been associated with both haematological cancer2–4 and coronary heart disease5—this phenomenon is termed clonal haematopoiesis of indeterminate potential (CHIP)6. Simultaneous analyses of germline and somatic whole- ...
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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 A. 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 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 A. 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, Yongmei 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 K. 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,
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for association using annotation information), a scalable and powerful RV association test method that effectively incorporates both variant categories and multiple complementary annotations using a dynamic weighting scheme. For the latter, we introduce ‘ ...
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Waihay J. Wong, Connor A. Emdin, Alexander G. Bick, Seyedeh M. Zekavat, Abhishek Niroula, James P. Pirruccello, Laura E. Dichtel, Gabriel K. Griffin, Md Mesbah Uddin, Christopher J. Gibson, Veronica Kovalcik, Amy Lin, Marie McConkey, Amélie Vromman, Rob S. Sellar, Peter G. Kim, Mridul Agrawal, Joshua S. Weinstock, Michelle T. Long, Bing Yu, Rajarshi Banerjee, Rowan C. Nicholls, Andrea Dennis, Matt Kelly, Po−Ru Loh, Steve McCarroll, Eric Boerwinkle, Ramachandran S. Vasan, Siddhartha Jaiswal, Andrew D. Johnson, Raymond T. Chung, Kathleen E. Corey, Daniel Levy, Christie M. Ballantyne, 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 E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Nathan R. Blue, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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 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, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, 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, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, Jeff Haessler, Michael Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, 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, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert S. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, JoAnn E. Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom,
Chronic liver disease is a major public health burden worldwide1. Although different aetiologies and mechanisms of liver injury exist, progression of chronic liver disease follows a common pathway of liver inflammation, injury and fibrosis2. Here we examined the association between clonal haematopoiesis of indeterminate potential (CHIP) and chronic liver disease in 214,563 individuals from 4 independent cohorts with whole-exome sequencing data (Framingham Heart Study, Atherosclerosis Risk in Communities ...
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Joshua S. Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn, Julia A. Belk, Hind Bouzid, Bence Dániel, Zhuang Miao, Nghi Ly, Taralynn Mack, Sofia E. Luna, Katherine P. Prothro, Shaneice Mitchell, Cecelia Laurie, Jai Broome, Kent D. Taylor, Xiuqing Guo, Moritz F. Sinner, Aenne S. von Falkenhausen, Stefan Kääb, Alan R. Shuldiner, Jeffrey R. O’Connell, Joshua P. Lewis, Eric Boerwinkle, Kathleen C. Barnes, Nathalie Chami, Eimear E. Kenny, Ruth J. F. Loos, Myriam Fornage, Lifang Hou, Donald M. Lloyd‐Jones, Susan Redline, Brian E. Cade, Bruce M. Psaty, Joshua C. Bis, Jennifer A. Brody, Edwin K. Silverman, Jeong H. Yun, Dandi Qiao, Nicholette D. Palmer, Barry I. Freedman, Donald W. Bowden, Michael H. Cho, Dawn L. DeMeo, Ramachandran S. Vasan, Lisa R. Yanek, Lewis C. Becker, Sharon L. R. Kardia, Patricia A. Peyser, Jiang He, Michiel Rienstra, Pim van der Harst, Robert C. Kaplan, Susan R. Heckbert, Nicholas L. Smith, Kerri L. Wiggins, Donna K. Arnett, Marguerite R. Irvin, Hemant K. Tiwari, Michael J. Cutler, Stacey Knight, J. Brent Muhlestein, Adolfo Correa, Laura M. Raffield, Yan Gao, Mariza de Andrade, Jerome I. Rotter, Stephen S. Rich, Russell P. Tracy, Barbara A. Konkle, Jill M. Johnsen, Marsha M. Wheeler, J. G. Smith, Olle Melander, Peter M. Nilsson, Brian Custer, Ravindranath Duggirala, Joanne E. Curran, John Blangero, Stephen T. McGarvey, L. Keoki Williams, Shujie Xiao, Mao Yang, C. Charles Gu, Yii‐Der Ida Chen, Wen‐Jane Lee, Gregory M. Marcus, John P. Kane, Clive R. Pullinger, M. Benjamin Shoemaker, Dawood Darbar, Dan M. Roden, Christine M. Albert, Charles Kooperberg, Ying Zhou, JoAnn E. Manson, Pinkal Desai, Andrew D. Johnson, Rasika A. Mathias, 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 E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, 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, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, David M. Haas, Jeff Haessler, Michael Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, 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, Taobo Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff,
Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2–6, but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling. Here, to circumvent this limitation, we developed a method to infer the expansion rate from data from a single time point. We ...
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Daniel H. Katz, Usman A. Tahir, Alexander G. Bick, Akhil Pampana, Debby Ngo, Mark D. Benson, Zhi Yu, Jeremy Robbins, Zsu‐Zsu Chen, Daniel E. Cruz, Shuliang Deng, Laurie Farrell, Sumita Sinha, Alec A. Schmaier, Dongxiao Shen, Yan Gao, Michael E. Hall, Adolfo Correa, Russell P. Tracy, Peter Durda, Kent D. Taylor, Yongmei Liu, W. Craig Johnson, Xiuqing Guo, Jie Yao, Yii‐Der Ida Chen, Ani Manichaikul, Deepti Jain, Claude Bouchard, Mark A. Sarzynski, Stephen S. Rich, Jerome I. Rotter, Thomas J. Wang, James G. Wilson, Pradeep Natarajan, Robert E. Gerszten, 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 E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, 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, Larry Bielak, Joshua Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban Burchard, Carlos Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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 R. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda A. Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, David M. Haas, Jeff Haessler, Michael Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Marie Jones, Hyun Min Kang, Robert C. Kaplan, Sharon Kardia, Shannon Kelly, Eimear Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, JoAnn Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner,
Plasma proteins are critical mediators of cardiovascular processes and are the targets of many drugs. Previous efforts to characterize the genetic architecture of the plasma proteome have been limited by a focus on individuals of European descent and leveraged genotyping arrays and imputation. Here we describe whole genome sequence analysis of the plasma proteome in individuals with greater African ancestry, increasing our power to identify novel genetic determinants.
Lippincott Williams & Wilkins
Yang Luo, Masahiro Kanai, Wanson Choi, Xinyi Li, Saori Sakaue, Kenichi Yamamoto, Kotaro Ogawa, María Gutiérrez‐Arcelus, Peter K. Gregersen, Philip E. Stuart, James T. Elder, Lukas Forer, Sebastian Schönherr, Christian Fuchsberger, Albert V. Smith, Jacques Fellay, Mary Carrington, David W. Haas, Xiuqing Guo, Nicholette D. Palmer, Yii‐Der Ida Chen, Jerome I. Rotter, Kent D. Taylor, Stephen S. Rich, Adolfo Correa, James G. Wilson, Sekar Kathiresan, Michael H. Cho, Andres Metspalu, Tõnu Esko, Yukinori Okada, Buhm Han, 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 E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Daniel I. Chasman, Sameer Chavan, Bo‐Juen Chen, Wei‐Min Chen, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Carolyn Crandall, James D. Crapo, L. Adrienne Cupples, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda A. Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Namrata Gupta, David M. Haas, Jeff Haessler, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew M. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, JoAnn E. Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack, David T. Paik,
Fine-mapping to plausible causal variation may be more effective in multi-ancestry cohorts, particularly in the MHC, which has population-specific structure. To enable such studies, we constructed a large (n = 21,546) HLA reference panel spanning five global populations based on whole-genome sequences. Despite population-specific long-range haplotypes, we demonstrated accurate imputation at G-group resolution (94.2%, 93.7%, 97.8% and 93.7% in admixed African (AA), East Asian (EAS), European (EUR) and Latino ( ...
Nature Portfolio
Ali R. Keramati, Ming‐Huei Chen, Benjamin A.T. Rodriguez, Lisa R. Yanek, Arunoday Bhan, Brady Gaynor, Kathleen A. Ryan, Jennifer A. Brody, Xue Zhong, Qiang Wei, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura Almasy, Alvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Dan E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, 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, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Daniel I. Chasman, Sameer Chavan, Bo-Juen Chen, Wei‐Min Chen, Y Eugene Chen, Michael 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, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, 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, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, David M. Haas, Jeff Haessler, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, 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, Taobo Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Marie Jones, Hyun Min Kang, Robert M. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Sandra Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Daniel Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, JoAnn E. Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack, David T. Paik, Nicholette D. Palmer, James S. Pankow, George Papanicolaou, Corette B. Parker, Gina M. Peloso, Juan M. Peralta, Marco Perez, James A. Perry, Annette Peters, Patricia A. Peyser, Lawrence S. Phillips, Jacob Pleiness, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Bruce M. Psaty,
Abstract Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through a whole genome sequencing (WGS) approach in 3,855 NHLBI Trans-Omics for Precision Medicine (TOPMed) participants deeply phenotyped for platelet aggregation. We identify the RGS18 locus, which encodes a myeloerythroid lineage-specific regulator of G-protein signaling that co-localizes ...
Nature Portfolio
Zilin Li, Xihao Li, Hufeng Zhou, Sheila M. Gaynor, Margaret Sunitha Selvaraj, Theodore Arapoglou, Corbin Quick, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K. Arnett, Paul L. Auer, Lawrence F. Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jennifer A. Brody, Brian E. Cade, Matthew P. Conomos, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, Paul S. de Vries, Ravindranath Duggirala, Nora Franceschini, Barry I. Freedman, Harald H.H. Göring, Xiuqing Guo, Rita R. Kalyani, Charles Kooperberg, Brian G. Kral, Leslie A. Lange, Bridget M. Lin, Ani Manichaikul, Alisa K. Manning, Lisa W. Martin, Rasika A. Mathias, James B. Meigs, Braxton D. Mitchell, May E. Montasser, Alanna C. Morrison, Take Naseri, Jeffrey R. O’Connell, Nicholette D. Palmer, Patricia A. Peyser, Bruce M. Psaty, Laura M. Raffield, Susan Redline, Alexander P. Reiner, Muagututi‘a Sefuiva Reupena, Kenneth Rice, Stephen S. Rich, Jennifer A. Smith, Kent D. Taylor, Margaret A. Taub, Ramachandran S. Vasan, Daniel E. Weeks, James G. Wilson, Lisa R. Yanek, Wei Zhao, 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 E. Arking, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Nathan R. Blue, Russell P. Bowler, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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 Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Elaine Cornell, Carolyn Crandall, James D. Crapo, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, 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, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, 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, Sharon Graw, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Namrata Gupta, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew M. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Holly Kramer, Christoph Lange, Ethan M. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, JoAnn E. Manson, Melissa Marton, Susan K. Mathai, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Matt Moll, Zeineen Momin, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu,
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV association. However, existing methods have limited ability in analyzing the noncoding genome. We propose a computationally efficient and robust noncoding RV association detection framework, STAARpipeline, to automatically annotate a whole-genome sequencing study and perform flexible noncoding ...
Nature Portfolio
Xihao Li, Corbin Quick, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu, Han Chen, Margaret Sunitha Selvaraj, Ryan Sun, Rounak Dey, Donna K. Arnett, Lawrence F. Bielak, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jennifer A. Brody, Brian E. Cade, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, Paul S. de Vries, Ravindranath Duggirala, Barry I. Freedman, Harald H.H. Göring, Xiuqing Guo, Jeffrey Haessler, Rita R. Kalyani, Charles Kooperberg, Brian G. Kral, Leslie A. Lange, Ani Manichaikul, Lisa W. Martin, Stephen T. McGarvey, Braxton D. Mitchell, May E. Montasser, Alanna C. Morrison, Take Naseri, Jeffrey R. O’Connell, Nicholette D. Palmer, Patricia A. Peyser, Bruce M. Psaty, Laura M. Raffield, Susan Redline, Alexander P. Reiner, Muagututi‘a Sefuiva Reupena, Kenneth Rice, Stephen S. Rich, Colleen M. Sitlani, Jennifer A. Smith, Kent D. Taylor, Ramachandran S. Vasan, Cristen J. Willer, James G. Wilson, Lisa R. Yanek, Wei Zhao, 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 E. Arking, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Thomas W. Blackwell, Nathan R. Blue, Russell P. Bowler, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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 Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Carolyn Crandall, James D. Crapo, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, 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, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, 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, Heather Geiger, Bruce D. Gelb, 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, Sharon Graw, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Namrata Gupta, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew M. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Holly Kramer, Christoph Lange, Ethan M. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Alisa K. Manning, JoAnn E. Manson, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Matt Moll, Zeineen Momin, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack,
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with complex phenotypes. Existing rare variant meta-analysis approaches are not scalable to biobank-scale WGS data. Here we present MetaSTAAR, a powerful and resource-efficient rare variant meta-analysis framework for large-scale WGS/WES studies. MetaSTAAR accounts for relatedness and population structure, ...
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Usman A. Tahir, Daniel H. Katz, Julián Ávila-Pacheco, Alexander G. Bick, Akhil Pampana, Jeremy Robbins, Zhi Yu, Zsu‐Zsu Chen, Mark D. Benson, Daniel E. Cruz, Debby Ngo, Shuliang Deng, Xu Shi, Shuning Zheng, Aaron S. Eisman, Laurie Farrell, Michael E. Hall, Adolfo Correa, Russell P. Tracy, Peter Durda, Kent D. Taylor, Yongmei Liu, W. Craig Johnson, Xiuqing Guo, Jie Yao, Yii‐Der Ida Chen, Ani Manichaikul, Frederick L. Ruberg, William S. Blaner, Deepti Jain, 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 E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Nathan R. Blue, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Daniel I. Chasman, Sameer Chavan, Bo‐Juen Chen, Wei‐Min Chen, Michael Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Carolyn Crandall, James D. Crapo, L. Adrienne Cupples, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda A. Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, Mark W. Geraci, Søren Germer, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Namrata Gupta, Jeff Haessler, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Cashell E. Jaquish, Jill M. Johnsen, Andrew M. Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Sandra Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Daniel Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Alisa K. Manning, JoAnn E. Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack, David T. Paik, Nicholette D. Palmer, James S. Pankow, George Papanicolaou, Corette B. Parker, Gina M. Peloso, Juan M. Peralta, Marco Perez, James A. Perry, Ulrike Peters,
Abstract Integrating genetic information with metabolomics has provided new insights into genes affecting human metabolism. However, gene-metabolite integration has been primarily studied in individuals of European Ancestry, limiting the opportunity to leverage genomic diversity for discovery. In addition, these analyses have principally involved known metabolites, with the majority of the profiled peaks left unannotated. Here, we perform a whole genome association study of 2,291 metabolite peaks ( ...
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Pierrick Wainschtein, Deepti Jain, Zhili Zheng, Stella Aslibekyan, Diane M. Becker, Wenjian Bi, Jennifer A. Brody, Jenna C. Carlson, Adolfo Correa, Margaret Mengmeng Du, Lindsay Fernández‐Rhodes, Kendra Ferrier, Misa Graff, Xiuqing Guo, Jiang He, Nancy L. Heard‐Costa, Heather M. Highland, Joel N. Hirschhorn, Candace M Howard-Claudio, Carmen R. Isasi, Rebecca D. Jackson, Jicai Jiang, Roby Joehanes, Anne E. Justice, Rita R. Kalyani, Sharon L. R. Kardia, Ethan M. Lange, Meryl S. LeBoff, Seunggeun Lee, Xihao Li, Zilin Li, Elise Lim, D. Y. Lin, Xihong Lin, Simin Liu, Yingchang Lu, JoAnn E. Manson, Lisa W. Martin, Caitlin McHugh, Julie Mikulla, Solomon K. Musani, Maggie Ng, Deborah A. Nickerson, Nicholette D. Palmer, James A. Perry, Ulrike Peters, Michael Preuß, Qibin Qi, Laura M. Raffield, Laura J. Rasmussen‐Torvik, Alex P. Reiner, Emily M. Russell, Colleen M. Sitlani, Jennifer A. Smith, Cassandra N. Spracklen, Tao Wang, Zhe Wang, Jennifer Wessel, Hanfei Xu, Mohammad Yaser, Sachiko Yoneyama, Kendra A. Young, Jingwen Zhang, Xinruo Zhang, Hufeng Zhou, Xiaofeng Zhu, Sebastian Zoellner, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Dan E. Arking, Allison E. Ashley‐Koch, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Donald W. Bowden, Russell P. Bowler, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Sameer Chavan, Bo‐Juen Chen, Wei‐Min Chen, Michael Cho, Seung Hoan Choi, Lee‐Ming Chuang, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Carolyn Crandall, James D. Crapo, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean P. David, Colleen Davis, Michelle Daya, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, Tasha E. Fingerlin, Matthew Flickinger, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Namrata Gupta, David M. Haas, Jeff Haessler, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Ben Heavner, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Cashell E. Jaquish, Jill M. Johnsen, Andrew M. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Holly Kramer, Christoph Lange, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Yongmei Liu, Yu Liu, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, Melissa Marton, Susan K. Mathai, Susanne May, Patrick F. McArdle, Sean McFarland, Daniel McGoldrick, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Osuji Nkechinyere, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack, David T. Paik, Nicholette D. Palmer,
Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height ...
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Kathryn Recto, Priyadarshini Kachroo, Tianxiao Huan, David Van Den Berg, Gha Young Lee, Helena Bui, Dong Heon Lee, Jessica Gereige, Chen Yao, Shih‐Jen Hwang, Roby Joehanes, Scott T. Weiss, George O'connor, Daniel Levy, Dawn L. DeMeo, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter H. Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Dan E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri H. Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Nathan R. Blue, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, April P. Carson, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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 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, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, 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, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, Jeff Haessler, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Taobo Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Eimear E. Kenny, Michael Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Jiwon Lee, Charles Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Daniel Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, JoAnn E. Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack, David T. Paik, Nicholette D. Palmer, James S. Pankow, George Papanicolaou, Corette B. Parker, Gina M. Peloso, Juan M. Peralta, Marco Perez, James A. Perry, Annette Peters, Patricia A. Peyser, Lawrence S. Phillips, Jacob Pleiness,
Identifying novel epigenetic signatures associated with serum immunoglobulin E (IgE) may improve our understanding of molecular mechanisms underlying asthma and IgE-mediated diseases.
Elsevier BV
Tamar Sofer, Xiuwen Zheng, Cecelia Laurie, Stephanie M. Gogarten, Jennifer A. Brody, Matthew P. Conomos, Joshua C. Bis, Timothy A. Thornton, Adam A. Szpiro, Jeffrey R. O’Connell, Ethan M. Lange, Yan Gao, L. Adrienne Cupples, Bruce M. Psaty, 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, Najib Ayas, Adithya Balasubramanian, 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, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Romero, 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, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Huyen Dinh, HarshaVardhan Doddapaneni, Qing Duan, Shannon Dugan‐Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil C. Erzurum, Charles R. Farber, Jesse Farek, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda A. Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, 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, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, David M. Haas, Jeff Haessler, Michael E. Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, John S. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Jianhong Hu, Yi‐Jen Hung, Haley Huston, Chii Min Hwu, Marguerite R. Irvin, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Marie Jones, Hyun Min Kang, Robert C. Kaplan, Sharon Kardia, Shannon Kelly, Eimear Kenny, Michael Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Sandra Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Joshua P. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, Alisa K. Manning, JoAnn E. Manson, Lisa W. Martin, Melissa Marton, Susan K. Mathai, Rasika A. Mathias, Susanne May, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James B. Meigs, Vipin K. Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney G. Montgomery, Donna M. Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Pradeep Natarajan, Sergeï Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, Geoffrey Okwuonu, Allan I Pack, David T. Paik, Nicholette D. Palmer, James S. Pankow, George Papanicolaou, Corette B. Parker, Gina M. Peloso, Juan M. Peralta, Marco Pérez, James A. Perry, Ulrike Peters, Patricia A. Peyser, Lawrence S. Phillips, Jacob Pleiness, Toni I. Pollin, Wendy S. Post, Julia Powers Becker,
Abstract In modern Whole Genome Sequencing (WGS) epidemiological studies, participant-level data from multiple studies are often pooled and results are obtained from a single analysis. We consider the impact of differential phenotype variances by study, which we term ‘variance stratification’. Unaccounted for, variance stratification can lead to both decreased statistical power, and increased false positives rates, depending on how allele frequencies, sample sizes, and phenotypic variances vary across ...
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Priyadarshini Kachroo, Julian Hecker, Bo Chawes, Tarunveer S. Ahluwalia, Michael H. Cho, Dandi Qiao, Rachel S. Kelly, Su H. Chu, Yamini V. Virkud, Mengna Huang, Kathleen C. Barnes, Esteban G. Burchard, Celeste Eng, Donglei Hu, Juan C. Celedón, Michelle Daya, Albert M. Levin, Hongsheng Gui, L. Keoki Williams, Erick Forno, Angel C. Y. Mak, Lydiana Ávila, Manuel E. Soto-Quirós, Michelle M. Cloutier, Edna Acosta‐Pérez, Glorisa Canino, Klaus Bønnelykke, Hans Bisgaard, Benjamin A. Raby, Christoph Lange, Scott T. Weiss, Jessica Lasky‐Su, Namiko Abe, Gonçalo R. Abecasis, Christine M. Albert, Nicholette Palmer Allred, Laura Almasy, Alvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan E. 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, Terri H. Beaty, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Ferdouse Begum, Amber L. Beitelshees, Emelia J. Benjamin, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Ingrid B. Borecki, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Esteban G. Burchard, Jonathan Cardwell, Cara L. Carty, Richard Casaburi, James F. Casella, Mark Chaffin, Christy 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, 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, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Ron Do, Qing Duan, Ravi Duggirala, Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Patrick T. Ellinor, Leslie Emery, Charles R. Farber, Leanna Farnam, Tasha E. Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Yan Gao, Margery Gass, Bruce D. Gelb, Xiaoqi Geng, Søren Germer, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da‐Wei Gong, Harald H.H. Göring, C. Charles Gu, Yue Guan, Xiuqing Guo, Jeff Haessler, Michael Hall, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, John E. Hokanson, Kramer Holly, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, 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 Marie Jones, Priyadarshini Kachroo, Hyun Min Kang, Robert C. Kaplan, Sharon L. R. Kardia, Sekar Kathiresan, Laura J. Kaufman, Shannon Kelly, Eimear E. Kenny, Michael D. Kessler, Alyna Khan, Gregory L. Kinney, Barbara A. Konkle, Charles Kooperberg, Stephanie Krauter, Christoph Lange, Ethan M. Lange, Leslie A. Lange, Cathy C. Laurie, Cecelia Laurie, Meryl S. LeBoff, Seunggeun Shawn Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Dan D. Levy, Joshua P. Lewis, Yun Li, Honghuang Lin, Keng Han Lin, Simin Liu, Yongmei 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 Martin, Susan K. Mathai, Rasika A. Mathias, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Stephen T. McGarvey, Hao Mei, Deborah A. Meyers, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, May E. Montasser, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Pradeep Natarajan, Sergeï Nekhai, Deborah A. Nickerson, Kari E. North, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, James S. Pankow, George Papanicolaou, Margaret M. Parker, Afshin Parsa, Sara Penchev, Juan M. Peralta, Marco Pérez, James A. Perry, Ulrike Peters, Patricia A. Peyser, Lawrence S. Phillips, Sam Phillips, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Dmitry Prokopenko, 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 M. Reed, Elizabeth A. Regan, Alex P. Reiner, Kenneth Rice, Stephen S. Rich, Dan M. Roden, Carolina Roselli, Jerome I. Rotter, Ingo Ruczinski, Pamela Russell, Sarah Ruuska, Kathleen A. Ryan, Phuwanat Sakornsakolpat, Shabnam Salimi, Steven L. Salzberg, Kevin Sandow, Vijay G. Sankaran, Christopher Scheller, Ellen M. Schmidt, Karen Schwander, David C. Schwartz, Frank C. Sciurba, Christine E. Seidman, Jonathan G. Seidman, Vivien A. Sheehan, Amol C. Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, Brian Silver,
Background Asthma is a common respiratory disorder with a highly heterogeneous nature that remains poorly understood. The objective was to use whole genome sequencing (WGS) data to identify regions of common genetic variation contributing to lung function in individuals with a diagnosis of asthma. Methods WGS data were generated for 1,053 individuals from trios and extended pedigrees participating in the family-based Genetic Epidemiology of Asthma in Costa Rica study. Asthma affection status was defined through ...
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... Elect), Allen M. Gown (Vice President Elect), Regan Fulton (Secretary-Treasurer), Richard Cartun, Richard N. Eisen (Society for Applied Immunohistochemistry), Blake Gilks, Emina E. Torlakovics (Canadian Immunohistochemistry Quality Control), Søren Nielsen (NordiQC), Paul Swanson (formerly of CAP IHC ...
Tópico(s): Molecular Biology Techniques and Applications
2016 - Lippincott Williams & Wilkins | Applied immunohistochemistry & molecular morphology
Matthew H. Bailey, William U. Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, Rehan Akbani, Pavana Anur, Matthew H. Bailey, Alex Buchanan, Kami Chiotti, Kyle R. Covington, Allison Creason, Li Ding, Kyle Ellrott, Yu Fan, Steven M. Foltz, Gad Getz, Walker Hale, David Haussler, Julian M. Hess, Carolyn M. Hutter, Cyriac Kandoth, L. Sylvia, Melpomeni Kasapi, Dave Larson, Ignaty Leshchiner, John Letaw, Singer Ma, Michael D. McLellan, Yifei Men, Gordon B. Mills, Beifang Niu, Myron Peto, Amie Radenbaugh, Sheila M. Reynolds, Gordon Saksena, Heidi J. Sofia, Chip Stewart, Adam J. Struck, Joshua M. Stuart, Wenyi Wang, John N. Weinstein, David A. Wheeler, Christopher K. Wong, Xi Liu, Kai Ye, Matthew H. Bailey, Beifang Niu, Matthias Bieg, Paul C. Boutros, Ivo Buchhalter, Adam P. Butler, Ken Chen, Zechen Chong, Li Ding, Oliver Drechsel, Lewis Jonathan Dursi, Roland Eils, Kyle Ellrott, Shadrielle M. G. Espiritu, Yu Fan, Robert S. Fulton, Shengjie Gao, Josep L. L. Gelpi, Mark Gerstein, Gad Getz, Santiago González, Marta Gut, Faraz Hach, Michael C. Heinold, Julian M. Hess, Jonathan Hinton, Taobo Hu, Vincent Huang, Yi Huang, Barbara Hutter, David Jones, Jongsun Jung, Natalie Jäger, Hyung‐Lae Kim, Kortine Kleinheinz, Sushant Kumar, Yogesh Kumar, Christopher M. Lalansingh, Ignaty Leshchiner, Ivica Letunić, Dimitri Livitz, Z. Eric, Yosef E. Maruvka, R. Jay Mashl, Michael D. McLellan, Andrew Menzies, Ana Milovanovic, Morten Muhlig Nielsen, Stephan Ossowski, Nagarajan Paramasivam, Jakob Skou Pedersen, Marc D. Perry, Montserrat Puiggròs, Keiran Raine, Esther Rheinbay, Romina Royo, S. Cenk Ṣahinalp, Gordon Saksena, Iman Sarrafi, Matthias Schlesner, Jared T. Simpson, Lucy Stebbings, Chip Stewart, Miranda D. Stobbe, Jon W. Teague, Grace Tiao, David Torrents, Jeremiah A. Wala, Jiayin Wang, Wenyi Wang, Sebastian M. Waszak, Joachim Weischenfeldt, Michael C. Wendl, Johannes Werner, Zhenggang Wu, Hong Xue, Sergei Yakneen, Takafumi N. Yamaguchi, Kai Ye, Venkata Yellapantula, Christina K. Yung, Junjun Zhang, Gordon Saksena, Kyle Ellrott, Michael C. Wendl, David A. Wheeler, Gad Getz, Jared T. Simpson, Mark Gerstein, Li Ding, Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung-Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir C. Akdemir, Hikmat Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B. Alexandrov, Adrian Ally, Kathryn Alsop, Eva G. Álvarez, Fernanda Amary, Samirkumar B. Amin, Brice Aminou, Ole Ammerpohl, Matthew J. Anderson, Yeng Ang, Davide Antonello, Pavana Anur, Samuel Aparício, Elizabeth L. Appelbaum, Yasuhito Arai, Axel Aretz, Koji Arihiro, Shun‐ichi Ariizumi, Joshua Armenia, Laurent Arnould, L. Sylvia, Yassen Assenov, Gurnit Atwal, Sietse Aukema, J. Todd Auman, Miriam R. R. Aure, Philip Awadalla, Marta Aymerich, Gary D. Bader, Adrian Baez‐Ortega, Matthew H. Bailey, Peter J. Bailey, Miruna Balasundaram, Saianand Balu, Pratiti Bandopadhayay, Rosamonde E. Banks, Stefano Barbi, Andrew P. Barbour, Jonathan Barenboim, Jill S. Barnholtz‐Sloan, Hugh Barr, Elisabet Barrera, John M.S. Bartlett, Javier Bartolomé, Claudio Bassi, Oliver F. Bathe, Daniel Baumhoer, Prashant Bavi, Stephen B. Baylin, Wojciech Bażant, Duncan Beardsmore, Tim Beck, Sam Behjati, Andreas Behren, Beifang Niu, Cindy Bell, Sergi Beltrán, Christopher C. Benz, Andrew Berchuck, Anke Bergmann, Erik N. Bergstrom, Benjamin P. Berman, Daniel M. Berney, Stephan Wolf, Rameen Beroukhim, Mario Berríos, Samantha Bersani, Johanna Bertl, Miguel Betancourt, Vinayak Bhandari, Shriram G. Bhosle, Andrew V. Biankin, Matthias Bieg, Darell D. Bigner, Hans Binder, Ewan Birney, Michael J. Birrer, Nidhan K. Biswas, Bodil Bjerkehagen, Tom Bodenheimer, Lori Boice, Giada Bonizzato, Johann S. de Bono, Arnoud Boot, Arnoud Boot, Åke Borg, Arndt Borkhardt, Keith A. Boroevich, Ivan Borozan, Christoph Borst, Marcus Bosenberg, Mattia Bosio, Jacqueline Boultwood, Guillaume Bourque, Paul C. Boutros, G. Steven Bova, David Bowen, Reanne Bowlby, David D.L. Bowtell, Sandrine Boyault, Rich Boyce, Jeffrey M. Boyd, Alvis Brāzma, Paul M. Brennan, Daniel Brewer, Arie B. Brinkman, Robert G. Bristow, Russell R. Broaddus, Jane E. Brock, Malcolm V. Brock, Annegien Broeks, Angela N. Brooks, Denise Brooks, Benedikt Brors, Søren Brunak, Timothy J. C. Bruxner, Alicia L. Bruzos, Alex Buchanan, Ivo Buchhalter, Christiane Buchholz, Susan Bullman, Hazel Burke, Birgit Burkhardt, Kathleen H. Burns, John Busanovich, Carlos D. Bustamante, Adam P. Butler, Atul J. Butte, Niall J. Byrne, Anne‐Lise Børresen‐Dale, Rory Johnson, Andy Cafferkey, Declan Cahill, Claudia Calabrese, Carlos Caldas, Fabien Calvo, Niedzica Camacho, Peter J. Campbell,
Abstract The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic ...
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Matthew A. Reyna, David Haan, Marta Paczkowska, Lieven P. C. Verbeke, Miguél Vázquez, Abdullah Kahraman, Sergio Pulido-Tamayo, Jonathan Barenboim, Lina Wadi, Priyanka Dhingra, Raunak Shrestha, Gad Getz, Michael S. Lawrence, Jakob Skou Pedersen, Mark A. Rubin, David A. Wheeler, Søren Brunak, José M. G. Izarzugaza, Ekta Khurana, Kathleen Marchal, Christian von Mering, S. Cenk Şahinalp, Alfonso Valencia, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Pratiti Bandopadhayay, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, John Busanovich, Peter J. Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Klev Diamanti, Lars Feuerbach, J. Lynn Fink, Nuno A. Fonseca, Joan Frigola, Carlo Gambacorti‐Passerini, Dale W. Garsed, Mark Gerstein, Qianyun Guo, Marta Gut, Mark P. Hamilton, Nicholas J. Haradhvala, Arif Harmanci, Mohamed Helmy, Carl Herrmann, Julian M. Hess, Asger Hobolth, Ermin Hodzic, Chen Hong, Henrik Hornshøj, Keren Isaev, Rory Johnson, Todd A. Johnson, Malene Juul, Randi Istrup Juul, André Kahles, Manolis Kellis, Seungchan Kim, Jong K. Kim, Young-Wook Kim, Jan Komorowski, Jan O. Korbel, Sushant Kumar, Andrés Lanzós, Erik Larsson, Donghoon Lee, Kjong-Van Lehmann, Shantao Li, Xiaotong Li, Ziao Lin, Eric Minwei Liu, Lucas Lochovsky, Shaoke Lou, Tobias Madsen, Iñigo Martincorena, Alexander Martínez-Fundichely, Yosef E. Maruvka, Patrick D. McGillivray, William Meyerson, Ferran Muiños, Loris Mularoni, Hidewaki Nakagawa, Morten Muhlig Nielsen, Keunchil Park, Kiejung Park, Tirso Pons, Iker Reyes-Salazar, Esther Rheinbay, Carlota Rubio-Pérez, Gordon Saksena, Leonidas Salichos, Chris Sander, Steven E. Schumacher, Mark Shackleton, Ofer Shapira, Ciyue Shen, Shimin Shuai, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Lincoln Stein, David Tamborero, Grace Tiao, Tatsuhiko Tsunoda, Husen M. Umer, Liis Uusküla-Reimand, Claes Wadelius, Jiayin Wang, Jonathan Warrell, Sebastian M. Waszak, Joachim Weischenfeldt, Guanming Wu, Jun Yu, Jing Zhang, Xuanping Zhang, Yan Zhang, Zhongming Zhao, Lihua Zou, Jüri Reimand, Joshua M. Stuart, Benjamin J. Raphael, Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung-Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir C. Akdemir, Hikmat Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B. Alexandrov, Adrian Ally, Kathryn Alsop, Eva G. Álvarez, Fernanda Amary, Samirkumar B. Amin, Brice Aminou, Ole Ammerpohl, Matthew J. Anderson, Yeng Ang, Davide Antonello, Pavana Anur, Samuel Aparício, Elizabeth L. Appelbaum, Yasuhito Arai, Axel Aretz, Koji Arihiro, Shun‐ichi Ariizumi, Joshua Armenia, Laurent Arnould, L. Sylvia, Yassen Assenov, Gurnit Atwal, Sietse Aukema, J. Todd Auman, Miriam R. R. Aure, Philip Awadalla, Marta Aymerich, Gary D. Bader, Adrian Baez‐Ortega, Matthew H. Bailey, Peter J. Bailey, Miruna Balasundaram, Saianand Balu, Pratiti Bandopadhayay, Rosamonde E. Banks, Stefano Barbi, Andrew P. Barbour, Jonathan Barenboim, Jill S. Barnholtz‐Sloan, Hugh Barr, Elisabet Barrera, John Bartlett, Javier Bartolomé, Claudio Bassi, Oliver F. Bathe, Daniel Baumhoer, Prashant Bavi, Stephen B. Baylin, Wojciech Bażant, Duncan Beardsmore, Tim Beck, Sam Behjati, Andreas Behren, Beifang Niu, Cindy Bell, Sergi Beltrán, Christopher C. Benz, Andrew Berchuck, Anke K. Bergmann, Erik N. Bergstrom, Benjamin P. Berman, Daniel M. Berney, Stephan Wolf, Rameen Beroukhim, Mario Berríos, Samantha Bersani, Johanna Bertl, Miguel Betancourt, Vinayak Bhandari, Shriram G. Bhosle, Andrew V. Biankin, Matthias Bieg, Darell D. Bigner, Hans Binder, Ewan Birney, Michael Birrer, Nidhan K. Biswas, Bodil Bjerkehagen, Tom Bodenheimer, Lori Boice, Giada Bonizzato, Johann S. de Bono, Arnoud Boot, Arnoud Boot, Åke Borg, Arndt Borkhardt, Keith A. Boroevich, Ivan Borozan, Christoph W. Borst, Marcus Bosenberg, Mattia Bosio, Jacqueline Boultwood, Guillaume Bourque, Paul C. Boutros, G. Steven Bova, David Bowen, Reanne Bowlby, David D.L. Bowtell, Sandrine Boyault, Rich Boyce, Jeffrey M. Boyd, Alvis Brāzma, Paul Brennan, Daniel Brewer, Arie B. Brinkman, Robert G. Bristow, Russell R. Broaddus, Jane E. Brock, Malcolm V. Brock, Annegien Broeks, Angela N. Brooks, Denise Brooks, Benedikt Brors, Søren Brunak, Timothy J. C. Bruxner, Alicia L. Bruzos, Alex Buchanan, Ivo Buchhalter, Christiane Buchholz, Susan Bullman, Hazel Burke, Birgit Burkhardt, Kathleen H. Burns, John Busanovich, Carlos D. Bustamante, Adam P. Butler, Atul J. Butte, Niall J. Byrne, Anne‐Lise Børresen‐Dale, Rory Johnson, Andy Cafferkey, Declan Cahill, Claudia Calabrese, Carlos Caldas, Fabien Calvo, Niedzica Camacho, Peter J. Campbell, Elı́as Campo, Cinzia Cantù, Shaolong Cao, Thomas E. Carey, Joana Carlevaro-Fita, Rebecca Carlsen, Ivana Cataldo, Mario Cazzola, Jonathan Cebon, Robert Cerfolio, Dianne Chadwick, Dimple Chakravarty,
Abstract The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway ...
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Shimin Shuai, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Pratiti Bandopadhayay, Jonathan Barenboim, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, Søren Brunak, Peter J. Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach, J. Lynn Fink, Nuno A. Fonseca, Joan Frigola, Carlo Gambacorti‐Passerini, Dale W. Garsed, Mark Gerstein, Gad Getz, Qianyun Guo, Marta Gut, David Haan, Mark P. Hamilton, Nicholas J. Haradhvala, Arif O. Harmanci, Mohamed Helmy, Carl Herrmann, Julian M. Hess, Asger Hobolth, Ermin Hodzic, Hong Chen, Henrik Hornshøj, Keren Isaev, José M. G. Izarzugaza, Rory Johnson, Todd A. Johnson, Malene Juul, Randi Istrup Juul, André Kahles, Abdullah Kahraman, Manolis Kellis, Ekta Khurana, Jaegil Kim, Jong-Kwang Kim, Young-Wook Kim, Jan Komorowski, Jan O. Korbel, Sushant Kumar, Andrés Lanzós, Erik G. Larsson, Michael S. Lawrence, Donghoon Lee, Kjong-Van Lehmann, Shantao Li, Xiaotong Li, Ziao Lin, Eric Minwei Liu, Lucas Lochovsky, Shaoke Lou, Tobias Madsen, Kathleen Marchal, Iñigo Martincorena, Alexander Martínez-Fundichely, Yosef E. Maruvka, Patrick D. McGillivray, Matthew Meyerson, Ferran Muiños, Loris Mularoni, Hidewaki Nakagawa, Morten Muhlig Nielsen, Marta Paczkowska, Keunchil Park, Kiejung Park, Jakob Skou Pedersen, Tirso Pons, Sergio Pulido-Tamayo, Benjamin J. Raphael, Jüri Reimand, Iker Reyes-Salazar, Matthew A. Reyna, Esther Rheinbay, Mark A. Rubin, Carlota Rubio-Pérez, S. Cenk Şahinalp, Gordon Saksena, Leonidas Salichos, Chris Sander, Steven E. Schumacher, Mark Shackleton, Ofer Shapira, Ciyue Shen, Raunak Shrestha, Shimin Shuai, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Lincoln D. Stein, Joshua M. Stuart, David Tamborero, Grace Tiao, Tatsuhiko Tsunoda, Husen M. Umer, Liis Uusküla-Reimand, Alfonso Valencia, Miguél Vázquez, Lieven P. C. Verbeke, Claes Wadelius, Lina Wadi, Jiayin Wang, Jonathan Warrell, Sebastian M. Waszak, Joachim Weischenfeldt, David A. Wheeler, Guanming Wu, Jun Yu, Jing Zhang, Xuanping Zhang, Yan Zhang, Zhongming Zhao, Lihua Zou, Christian von Mering, Steven Gallinger, Lincoln D. Stein, Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung-Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir C. Akdemir, Hikmat Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B. Alexandrov, Adrian Ally, Kathryn Alsop, Eva G. Álvarez, Fernanda Amary, Samirkumar B. Amin, Brice Aminou, Ole Ammerpohl, Matthew J. Anderson, Yeng Ang, Davide Antonello, Pavana Anur, Samuel Aparício, Elizabeth L. Appelbaum, Yasuhito Arai, Axel Aretz, Koji Arihiro, Shun‐ichi Ariizumi, Joshua Armenia, Laurent Arnould, L. Sylvia, Yassen Assenov, Gurnit Atwal, Sietse Aukema, J. Todd Auman, Miriam R. R. Aure, Philip Awadalla, Marta Aymerich, Gary D. Bader, Adrian Baez‐Ortega, Peter J. Bailey, Peter J. Bailey, Miruna Balasundaram, Saianand Balu, Pratiti Bandopadhayay, Rosamonde E. Banks, Stefano Barbi, Andrew P. Barbour, Jonathan Barenboim, Jill S. Barnholtz‐Sloan, Hugh Barr, Elisabet Barrera, John G. Bartlett, Javier Bartolomé, Claudio Bassi, Oliver F. Bathe, Daniel Baumhoer, Prashant Bavi, Stephen B. Baylin, Wojciech Bażant, Duncan Beardsmore, Tim Beck, Sam Behjati, Andreas Behren, Beifang Niu, Cindy Bell, Sergi Beltrán, Christopher C. Benz, Andrew Berchuck, Anke K. Bergmann, Erik N. Bergstrom, Benjamin P. Berman, Daniel M. Berney, Stephan Wolf, Rameen Beroukhim, Mario Berríos, Samantha Bersani, Johanna Bertl, Miguel Betancourt, Vinayak Bhandari, Shriram G. Bhosle, Andrew V. Biankin, Matthias Bieg, Darell D. Bigner, Hans Binder, Ewan Birney, Michael Birrer, Nidhan K. Biswas, Bodil Bjerkehagen, Tom Bodenheimer, Lori Boice, Giada Bonizzato, Johann S. de Bono, Arnoud Boot, Arnoud Boot, Åke Borg, Arndt Borkhardt, Keith A. Boroevich, Ivan Borozan, Christoph W. Borst, Marcus Bosenberg, Mattia Bosio, Jacqueline Boultwood, Guillaume Bourque, Paul C. Boutros, G. Steven Bova, David Bowen, Reanne Bowlby, David D.L. Bowtell, Sandrine Boyault, Rich Boyce, Jeffrey M. Boyd, Alvis Brāzma, Paul M. Brennan, Daniel Brewer, Arie B. Brinkman, Robert G. Bristow, Russell R. Broaddus, Jane E. Brock, Malcolm V. Brock, Annegien Broeks, Angela N. Brooks, Denise Brooks, Benedikt Brors, Søren Brunak, Timothy J. C. Bruxner, Alicia L. Bruzos, Alex Buchanan, Ivo Buchhalter, Christiane Buchholz, Susan Bullman, Hazel Burke, Birgit Burkhardt, Kathleen H. Burns, John Busanovich, Carlos D. Bustamante, Adam P. Butler, Atul J. Butte, Niall J. Byrne, Anne‐Lise Børresen‐Dale, Rory Johnson, Andy Cafferkey, Declan Cahill, Claudia Calabrese, Carlos Caldas, Fabien Calvo, Niedzica Camacho, Peter J. Campbell, Elı́as Campo, Cinzia Cantù, Shaolong Cao, Thomas E. Carey, Joana Carlevaro-Fita, Rebecca Carlsen, Ivana Cataldo, Mario Cazzola, Jonathan Cebon, Robert Cerfolio,
Abstract The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here , as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium , which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features ...
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Marta Paczkowska, Jonathan Barenboim, Nardnisa Sintupisut, Natalie S. Fox, Helen Zhu, Diala Abd-Rabbo, Miles W. Mee, Paul C. Boutros, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, Søren Brunak, Peter J. Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach, J. Lynn Fink, Nuno A. Fonseca, Joan Frigola, Carlo Gambacorti‐Passerini, Dale W. Garsed, Mark Gerstein, Gad Getz, Abel González-Pérez, Qianyun Guo, Marta Gut, David Haan, Mark Hamilton, Nicholas J. Haradhvala, Arif Harmanci, Mohamed Helmy, Carl Herrmann, Julian M. Hess, Asger Hobolth, Ermin Hodzic, Chen Hong, Henrik Hornshøj, Keren Isaev, José M. G. Izarzugaza, Rory Johnson, Todd A. Johnson, Malene Juul, Randi Istrup Juul, André Kahles, Abdullah Kahraman, Manolis Kellis, Ekta Khurana, Jaegil Kim, Jong K. Kim, Young-Wook Kim, Jan Komorowski, Jan O. Korbel, Sushant Kumar, Andrés Lanzós, Michael S. Lawrence, Dong-Hoon Lee, Kjong-Van Lehmann, Shantao Li, Xiaotong Li, Ziao Lin, Eric Minwei Liu, Lucas Lochovsky, Shaoke Lou, Tobias Madsen, Kathleen Marchal, Iñigo Martincorena, Alexander Martínez-Fundichely, Yosef E. Maruvka, Patrick D. McGillivray, William Meyerson, Ferran Muiños, Loris Mularoni, Hidewaki Nakagawa, Morten Muhlig Nielsen, Keunchil Park, Kiejung Park, Jakob Skou Pedersen, Oriol Pich, Tirso Pons, Sergio Pulido-Tamayo, Benjamin J. Raphael, Iker Reyes-Salazar, Matthew A. Reyna, Esther Rheinbay, Mark A. Rubin, Carlota Rubio-Pérez, Radhakrishnan Sabarinathan, S. Cenk Şahinalp, Gordon Saksena, Leonidas Salichos, Chris Sander, Steven E. Schumacher, Mark Shackleton, Ofer Shapira, Ciyue Shen, Raunak Shrestha, Shimin Shuai, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Lincoln Stein, Joshua M. Stuart, David Tamborero, Grace Tiao, Tatsuhiko Tsunoda, Husen M. Umer, Liis Uusküla-Reimand, Alfonso Valencia, Miguél Vázquez, Lieven P. C. Verbeke, Claes Wadelius, Lina Wadi, Jiayin Wang, Jonathan Warrell, Sebastian M. Waszak, Joachim Weischenfeldt, David A. Wheeler, Guanming Wu, Jun Yu, Jing Zhang, Xuanping Zhang, Yan Zhang, Zhongming Zhao, Lihua Zou, Christian von Mering, Jüri Reimand, Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung‐Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir C. Akdemir, Hikmat Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B. Alexandrov, Adrian Ally, Kathryn Alsop, Eva G. Álvarez, Fernanda Amary, Samirkumar B. Amin, Brice Aminou, Ole Ammerpohl, Matthew J. Anderson, Yeng Ang, Davide Antonello, Pavana Anur, Samuel Aparício, Elizabeth L. Appelbaum, Yasuhito Arai, Axel Aretz, Koji Arihiro, Shun‐ichi Ariizumi, Joshua Armenia, Laurent Arnould, L. Sylvia, Yassen Assenov, Gurnit Atwal, Sietse Aukema, J. Todd Auman, Miriam R. R. Aure, Philip Awadalla, Marta Aymerich, Gary D. Bader, Adrian Baez‐Ortega, Matthew H. Bailey, Peter J. Bailey, Miruna Balasundaram, Saianand Balu, Pratiti Bandopadhayay, Rosamonde E. Banks, Stefano Barbi, Andrew P. Barbour, Jonathan Barenboim, Jill S. Barnholtz‐Sloan, Hugh Barr, Elisabet Barrera, John Bartlett, Javier Bartolomé, Claudio Bassi, Oliver F. Bathe, Daniel Baumhoer, Prashant Bavi, Stephen B. Baylin, Wojciech Bażant, Duncan Beardsmore, Tim Beck, Sam Behjati, Andreas Behren, Beifang Niu, Cindy Bell, Sergi Beltrán, Christopher C. Benz, Andrew Berchuck, Anke K. Bergmann, Erik N. Bergstrom, Benjamin P. Berman, Daniel M. Berney, Stephan Wolf, Rameen Beroukhim, Mario Berríos, Samantha Bersani, Johanna Bertl, Miguel Betancourt, Vinayak Bhandari, Shriram G. Bhosle, Andrew V. Biankin, Matthias Bieg, Darell D. Bigner, Hans Binder, Ewan Birney, Michael Birrer, Nidhan K. Biswas, Bodil Bjerkehagen, Tom Bodenheimer, Lori Boice, Giada Bonizzato, Johann S. de Bono, Arnoud Boot, Arnoud Boot, Åke Borg, Arndt Borkhardt, Keith A. Boroevich, Ivan Borozan, Christoph W. Borst, Marcus Bosenberg, Mattia Bosio, Jacqueline Boultwood, Guillaume Bourque, Paul C. Boutros, G. Steven Bova, David Bowen, Reanne Bowlby, David D.L. Bowtell, Sandrine Boyault, Rich Boyce, Jeffrey M. Boyd, Alvis Brāzma, Paul Brennan, Daniel Brewer, Arie B. Brinkman, Robert G. Bristow, Russell R. Broaddus, Jane E. Brock, Malcolm V. Brock, Annegien Broeks, Angela N. Brooks, Denise Brooks, Benedikt Brors, Søren Brunak, Timothy J. C. Bruxner, Alicia L. Bruzos, Alex Buchanan, Ivo Buchhalter, Christiane Buchholz, Susan Bullman, Hazel Burke, Birgit Burkhardt, Kathleen H. Burns, John Busanovich, Carlos D. Bustamante, Adam P. Butler, Atul J. Butte, Niall J. Byrne, Anne‐Lise Børresen‐Dale, Rory Johnson, Andy Cafferkey, Declan Cahill, Claudia Calabrese, Carlos Caldas, Fabien Calvo, Niedzica Camacho, Peter J. Campbell, Elı́as Campo, Cinzia Cantù, Shaolong Cao, Thomas E. Carey, Joana Carlevaro-Fita, Rebecca Carlsen,
Abstract Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes. As part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which ...
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Esther Rheinbay, Morten Muhlig Nielsen, Federico Abascal, Jeremiah A. Wala, Ofer Shapira, Grace Tiao, Henrik Hornshøj, Julian M. Hess, Randi Istrup Juul, Ziao Lin, Lars Feuerbach, Radhakrishnan Sabarinathan, Tobias Madsen, Jaegil Kim, Loris Mularoni, Shimin Shuai, Andrés Lanzós, Carl Herrmann, Yosef E. Maruvka, Ciyue Shen, Samirkumar B. Amin, Pratiti Bandopadhayay, Johanna Bertl, Keith A. Boroevich, John Busanovich, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, David Craft, Priyanka Dhingra, Klev Diamanti, Nuno A. Fonseca, Abel González-Pérez, Qianyun Guo, Mark P. Hamilton, Nicholas J. Haradhvala, Hong Chen, Keren Isaev, Todd A. Johnson, Malene Juul, André Kahles, Abdullah Kahraman, Young-Wook Kim, Jan Komorowski, Kiran Kumar, Sushant Kumar, Donghoon Lee, Kjong-Van Lehmann, Yilong Li, Eric Minwei Liu, Lucas Lochovsky, Keunchil Park, Oriol Pich, Nicola D. Roberts, Gordon Saksena, Steven E. Schumacher, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Chip Stewart, David Tamborero, José M. C. Tubío, Husen M. Umer, Liis Uusküla-Reimand, Claes Wadelius, Lina Wadi, Xiaotong Yao, Cheng‐Zhong Zhang, Jing Zhang, James E. Haber, Asger Hobolth, Marcin Imieliński, Manolis Kellis, Michael S. Lawrence, Christian von Mering, Hidewaki Nakagawa, Benjamin J. Raphael, Mark A. Rubin, Chris Sander, Lincoln D. Stein, Joshua M. Stuart, Tatsuhiko Tsunoda, David A. Wheeler, Rory Johnson, Jüri Reimand, Mark Gerstein, Ekta Khurana, Peter J. Campbell, Núria López-Bigas, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Pratiti Bandopadhayay, Jonathan Barenboim, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, Søren Brunak, Peter J. Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach, J. Lynn Fink, Nuno A. Fonseca, Joan Frigola, Carlo Gambacorti‐Passerini, Dale W. Garsed, Mark Gerstein, Gad Getz, Qianyun Guo, Marta Gut, David Haan, Mark P. Hamilton, Nicholas J. Haradhvala, Arif O. Harmanci, Mohamed Helmy, Carl Herrmann, Julian M. Hess, Asger Hobolth, Ermin Hodzic, Hong Chen, Henrik Hornshøj, Keren Isaev, José M. G. Izarzugaza, Rory Johnson, Todd A. Johnson, Malene Juul, Randi Istrup Juul, André Kahles, Abdullah Kahraman, Manolis Kellis, Ekta Khurana, Jaegil Kim, Jong-Kwang Kim, Young-Wook Kim, Jan Komorowski, Jan O. Korbel, Sushant Kumar, Andrés Lanzós, Erik Larsson, Michael S. Lawrence, Donghoon Lee, Kjong-Van Lehmann, Shantao Li, Xiaotong Li, Ziao Lin, Eric Minwei Liu, Lucas Lochovsky, Shaoke Lou, Tobias Madsen, Kathleen Marchal, Iñigo Martincorena, Alexander Martínez-Fundichely, Yosef E. Maruvka, Patrick D. McGillivray, William Meyerson, Ferran Muiños, Loris Mularoni, Hidewaki Nakagawa, Morten Muhlig Nielsen, Marta Paczkowska, Keunchil Park, Kiejung Park, Jakob Skou Pedersen, Tirso Pons, Sergio Pulido-Tamayo, Benjamin J. Raphael, Jüri Reimand, Iker Reyes-Salazar, Matthew A. Reyna, Esther Rheinbay, Mark A. Rubin, Carlota Rubio-Pérez, S. Cenk Sahinalp, Gordon Saksena, Leonidas Salichos, Chris Sander, Steven E. Schumacher, Mark Shackleton, Ofer Shapira, Ciyue Shen, Raunak Shrestha, Shimin Shuai, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Lincoln D. Stein, Joshua M. Stuart, David Tamborero, Grace Tiao, Tatsuhiko Tsunoda, Husen M. Umer, Liis Uusküla-Reimand, Alfonso Valencia, Miguel Vazquez, Lieven P. C. Verbeke, Claes Wadelius, Lina Wadi, Jiayin Wang, Jonathan Warrell, Sebastian M. Waszak, Joachim Weischenfeldt, David A. Wheeler, Guanming Wu, Jun Yu, Jing Zhang, Xuanping Zhang, Yan Zhang, Zhongming Zhao, Lihua Zou, Christian von Mering, Kadir C. Akdemir, Eva G. Álvarez, Adrian Baez‐Ortega, Rameen Beroukhim, Paul C. Boutros, David D.L. Bowtell, Benedikt Brors, Kathleen H. Burns, John Busanovich, Peter J. Campbell, Kin Chan, Ken Chen, Isidro Cortés‐Ciriano, Ana Dueso-Barroso, Andrew Dunford, Paul A. Edwards, Xavier Estivill, Dariush Etemadmoghadam, Lars Feuerbach, J. Lynn Fink, Milana Frenkel‐Morgenstern, Dale W. Garsed, Mark Gerstein, Dmitry A. Gordenin, David Haan, James E. Haber, Julian M. Hess, Barbara Hutter, Marcin Imieliński, David Jones, Young Seok Ju, Marat D. Kazanov, Leszek J. Klimczak, Youngil Koh, Jan O. Korbel, Kiran Kumar, Eunjung Alice Lee, Jake June-Koo Lee, Yilong Li, Andy G. Lynch, Geoff Macintyre, Florian Markowetz, Iñigo Martincorena, Alexander Martínez-Fundichely, Matthew Meyerson, Satoru Miyano, Hidewaki Nakagawa, Fábio C. P. Navarro, Stephan Ossowski, Peter J. Park, John V. Pearson, Montserrat Puiggròs, Karsten Rippe, Nicola D. Roberts, Steven A. Roberts, Bernardo Rodríguez–Martín, Steven E. Schumacher, Ralph Scully, Mark Shackleton, Nikos Sidiropoulos, Lina Sieverling, Chip Stewart, David Torrents, José M. C. Tubío, Izar Villasante, Nicola Waddell, Jeremiah A. Wala, Joachim Weischenfeldt, Lixing Yang, Xiaotong Yao, Sung-Soo Yoon, Jorge Zamora, Cheng‐Zhong Zhang, Joachim Weischenfeldt, Rameen Beroukhim, Iñigo Martincorena, Jakob Skou Pedersen, Gad Getz, Lauri A. Aaltonen,
The discovery of drivers of cancer has traditionally focused on protein-coding genes
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Joana Carlevaro-Fita, Andrés Lanzós, Lars Feuerbach, Chen Hong, David Mas-Ponte, Jakob Skou Pedersen, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Jonathan Barenboim, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, Søren Brunak, Peter J. Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach, J. Lynn Fink, Nuno A. Fonseca, Joan Frigola, Carlo Gambacorti‐Passerini, Dale W. Garsed, Mark Gerstein, Gad Getz, Abel González-Pérez, Qianyun Guo, Marta Gut, David Haan, Mark P. Hamilton, Nicholas J. Haradhvala, Arif Harmanci, Mohamed Helmy, Carl Herrmann, Julian M. Hess, Asger Hobolth, Ermin Hodzic, Chen Hong, Henrik Hornshøj, Keren Isaev, José M. G. Izarzugaza, Rory Johnson, Todd A. Johnson, Malene Juul, Randi Istrup Juul, André Kahles, Abdullah Kahraman, Manolis Kellis, Ekta Khurana, Seungchan Kim, Jong K. Kim, Young-Wook Kim, Jan Komorowski, Jan O. Korbel, Sushant Kumar, Andrés Lanzós, Erik G. Larsson, Michael S. Lawrence, Dong-Hoon Lee, Kjong-Van Lehmann, Shantao Li, Xiaotong Li, Ziao Lin, Eric Minwei Liu, Lucas Lochovsky, Shaoke Lou, Tobias Madsen, Kathleen Marchal, Iñigo Martincorena, Alexander Martínez-Fundichely, Yosef E. Maruvka, Patrick D. McGillivray, Matthew Meyerson, Ferran Muiños, Loris Mularoni, Hidewaki Nakagawa, Morten Muhlig Nielsen, Marta Paczkowska, Keunchil Park, Kiejung Park, Jakob Skou Pedersen, Oriol Pich, Tirso Pons, Sergio Pulido-Tamayo, Benjamin J. Raphael, Jüri Reimand, Iker Reyes-Salazar, Matthew A. Reyna, Esther Rheinbay, Mark A. Rubin, Carlota Rubio-Pérez, Radhakrishnan Sabarinathan, S. Cenk Sahinalp, Gordon Saksena, Leonidas Salichos, Chris Sander, Steven E. Schumacher, Mark Shackleton, Ofer Shapira, Ciyue Shen, Raunak Shrestha, Shimin Shuai, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Lincoln Stein, Joshua M. Stuart, David Tamborero, Grace Tiao, Tatsuhiko Tsunoda, Husen M. Umer, Liis Uusküla-Reimand, Alfonso Valencia, Miguél Vázquez, Lieven P. C. Verbeke, Claes Wadelius, Lina Wadi, Jiayin Wang, Jonathan Warrell, Sebastian M. Waszak, Joachim Weischenfeldt, David A. Wheeler, Guanming Wu, Jun Yu, Jing Zhang, Xuanping Zhang, Yan Zhang, Zhongming Zhao, Lihua Zou, Christian von Mering, Rory Johnson, Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung‐Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir C. Akdemir, Hikmat Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B. Alexandrov, Adrian Ally, Kathryn Alsop, Eva G. Álvarez, Fernanda Amary, Samirkumar B. Amin, Brice Aminou, Ole Ammerpohl, Matthew J. Anderson, Yeng Ang, Davide Antonello, Pavana Anur, Samuel Aparício, Elizabeth L. Appelbaum, Yasuhito Arai, Axel Aretz, Koji Arihiro, Shun‐ichi Ariizumi, Joshua Armenia, Laurent Arnould, L. Sylvia, Yassen Assenov, Gurnit Atwal, Sietse Aukema, J. Todd Auman, Miriam R. R. Aure, Philip Awadalla, Marta Aymerich, Gary D. Bader, Adrian Baez‐Ortega, Matthew H. Bailey, Peter J. Bailey, Miruna Balasundaram, Saianand Balu, Pratiti Bandopadhayay, Rosamonde E. Banks, Stefano Barbi, Andrew P. Barbour, Jonathan Barenboim, Jill S. Barnholtz‐Sloan, Hugh Barr, Elisabet Barrera, John M.S. Bartlett, Javier Bartolomé, Claudio Bassi, Oliver F. Bathe, Daniel Baumhoer, Prashant Bavi, Stephen B. Baylin, Wojciech Bażant, Duncan Beardsmore, Timothy A. Beck, Sam Behjati, Andreas Behren, Beifang Niu, Cindy Bell, Sergi Beltrán, Christopher C. Benz, Andrew Berchuck, Anke K. Bergmann, Erik N. Bergstrom, Benjamin P. Berman, Daniel M. Berney, Stephan Wolf, Rameen Beroukhim, Mario Berríos, Samantha Bersani, Johanna Bertl, Miguel Betancourt, Vinayak Bhandari, Shriram G. Bhosle, Andrew V. Biankin, Matthias Bieg, Darell D. Bigner, Hans Binder, Ewan Birney, Michael J. Birrer, Nidhan K. Biswas, Bodil Bjerkehagen, Tom Bodenheimer, Lori Boice, Giada Bonizzato, Johann S. de Bono, Arnoud Boot, Arnoud Boot, Åke Borg, Arndt Borkhardt, Keith A. Boroevich, Ivan Borozan, Christoph W. Borst, Marcus Bosenberg, Mattia Bosio, Jacqueline Boultwood, Guillaume Bourque, Paul C. Boutros, G. Steven Bova, David Bowen, Reanne Bowlby, David D.L. Bowtell, Sandrine Boyault, Rich Boyce, Jeffrey M. Boyd, Alvis Brāzma, Paul Brennan, Daniel Brewer, Arie B. Brinkman, Robert G. Bristow, Russell R. Broaddus, Jane E. Brock, Malcolm V. Brock, Annegien Broeks, Angela N. Brooks, Denise Brooks, Benedikt Brors, Søren Brunak, Timothy J. C. Bruxner, Alicia L. Bruzos, Alex Buchanan, Ivo Buchhalter, Christiane Buchholz, Susan Bullman, Hazel Burke, Birgit Burkhardt, Kathleen H. Burns, John Busanovich, Carlos D. Bustamante, Adam P. Butler, Atul J. Butte, Niall J. Byrne, Anne‐Lise Børresen‐Dale, Rory Johnson, Andy Cafferkey, Declan Cahill, Claudia Calabrese, Carlos Caldas, Fabien Calvo, Niedzica Camacho, Peter J. Campbell, Elı́as Campo, Cinzia Cantù, Shaolong Cao, Thomas E. Carey,
Abstract Long non-coding RNAs (lncRNAs) are a growing focus of cancer genomics studies, creating the need for a resource of lncRNAs with validated cancer roles. Furthermore, it remains debated whether mutated lncRNAs can drive tumorigenesis, and whether such functions could be conserved during evolution. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we introduce the Cancer LncRNA Census (CLC), a compilation of 122 GENCODE lncRNAs with causal roles in cancer ...
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