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Inherited causes of clonal haematopoiesis in 97,691 whole genomes
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 E. 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, 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, 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 S. 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 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, Afshin Parsa, Marco Perez, James A. Perry, Lawrence S. Phillips, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Laura J. Rasmussen‐Torvik, Aakrosh Ratan, Robert D. Reed, Elizabeth A. Regan, Muagututi‘a Sefuiva Reupena, Kenneth Rice, Carolina Roselli, Ingo Ruczinski, Pamela Russell, Sarah Ruuska, Kathleen A. Ryan, Danish Saleheen, Shabnam Salimi, Steven L. Salzberg, Kevin Sandow, Christopher Scheller, Ellen M. Schmidt, Karen Schwander, Frank C. Sciurba, Christine E. Seidman, Jonathan G. Seidman, Vivien Sheehan, Stephanie L. Sherman, Amol C. Shetty, Aniket Shetty, Brian Silver, Josh Smith, Tanja Smith, Sylvia Smoller, Beverly M. Snively, M Snyder, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Garrett Storm, Elizabeth A. Streeten, Jody Sylvia, Adam A. Szpiro, Carole Sztalryd, Daniel Taliun, Hua Tang, Matthew R.G. Taylor, Simeon I. Taylor, Marilyn J. Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley Tinker, David Tirschwell, Sarah A. Tishkoff, Hemant Tiwari, Catherine Tong, Michael Tsai, Dhananjay Vaidya, David Van Den Berg, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert B. Wallace, Avram Walts, Heming Wang, Karol Watson, Bruce S. Weir, Lu‐Chen Weng, Jennifer Wessel, Cristen J. Willer, Kayleen Williams, Carla G. Wilson, Joseph C. Wu, Huichun Xu, Lisa R. Yanek, Rongze Yang, Norann A. Zaghloul, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Degui Zhi, Xiang Zhou, Xiaofeng Zhu, Michael C. Zody, Sebastian Zoellner, Paul L. Auer, Charles Kooperberg, Cathy C. Laurie, Thomas W. Blackwell, Albert V. Smith, Hongyu Zhao, Ethan M. Lange, Leslie Lange, Stephen S. Rich, Jerome I. Rotter, James Wilson, Paul Scheet, Jacob O. Kitzman, Eric S. Lander, J Engreitz, Benjamin L. Ebert, Alex P. Reiner, Siddhartha Jaiswal, Gonçalo R. Abecasis, Vijay G. Sankaran, Sekar Kathiresan, Pradeep Natarajan
Bibliographic record
VenueNature · 2020
Typearticle
Languageen
FieldMedicine
TopicAcute Myeloid Leukemia Research
Canadian institutionsMcGill University
FundersNational Center for Advancing Translational SciencesNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesNational Human Genome Research InstituteNational Institutes of HealthNational Cancer InstituteNational Heart, Lung, and Blood InstituteNational Institute on Aging
KeywordsBiologyGermlineSomatic cellGeneticsHaematopoiesisGermline mutationGenome-wide association studyStem cellGenomeGeneMutationSingle-nucleotide polymorphismGenotype
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.019
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.027
GPT teacher head0.312
Teacher spread0.284 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations744
Published2020
Admission routes1
Has abstractno