Record W4408201413 · doi:10.1038/s41588-025-02074-9

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

2025· review· en· W4408201413 on OpenAlexafffund

Seung Hoan Choi, Sean J. Jurgens, Ling Xiao, Matthew C. Hill, Christopher M. Haggerty, Garðar Sveinbjörnsson, Valerie N. Morrill, Nicholas Marston, Lu‐Chen Weng, James P. Pirruccello, Davíð O. Arnar, Daníel F. Guðbjartsson, Helene Mantineo, Aenne S. von Falkenhausen, Arnljot Tveit, Bastiaan Geelhoed, Carolina Roselli, David R. Van Wagoner, Dawood Darbar, Doreen Haase, Elsayed Z. Soliman, Giovanni Davogustto, Goo Jun, Hugh Calkins, Jeffrey L. Anderson, Jennifer A. Brody, Jennifer L. Halford, John Barnard, John E. Hokanson, Jonathan D. Smith, Joshua C. Bis, Kendra A. Young, Linda Johnson, Lorenz Risch, Lorne J. Gula, Lydia Coulter Kwee, Mark Chaffin, Michael Kühne, Michael Preuß, Namrata Gupta, Navid A. Nafissi, Nicholas L. Smith, Peter M. Nilsson, Pim van der Harst, Quinn S. Wells, Renae Judy, Renate B. Schnabel, Renée Johnson, Roelof A. J. Smit, Stacey Gabriel, Stacey Knight, Tetsushi Furukawa, Thomas W. Blackwell, Victor Nauffal, Xin Wang, Yuan‐I Min, Zachary T. Yoneda, Zachary Laksman, Connie R. Bezzina, Álvaro Alonso, Bruce M. Psaty, Christine M. Albert, Dan E. Arking, Dan M. Roden, Daniel I. Chasman, Daniel J. Rader, David Conen, David D. McManus, Diane Fatkin, Emelia J. Benjamin, Eric Boerwinkle, Gregory M. Marcus, Ingrid E. Christophersen, J. Gustav Smith, Jason D. Roberts, Laura M. Raffield, M. Benjamin Shoemaker, Michael Cho, Michael J. Cutler, Michiel Rienstra, Mina K. Chung, Morten S. Olesen, Moritz F. Sinner, Nona Sotoodehnia, Paulus Kirchhof, Ruth J. F. Loos, Saman Nazarian, Sanghamitra Mohanty, Scott M. Damrauer, Stefan Kääb, Susan R. Heckbert, Susan Redline, Svati H. Shah, Toshihiro Tanaka, Yusuke Ebana, Gonçalo R. Abecasis, Xiaodong Bai, Suganthi Balasubramanian, Aris Baras, Christina Beechert, Boris Boutkov, Michael Cantor, Giovanni Coppola, Tanima De, Andrew Deubler, Aris N. Economides, Gisu Eom, Manuel A. R. Ferreira, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Lukas Habegger, Alicia Hawes, Marcus B. Jones, Katia Karalis, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Michael Lattari, Dadong Li, Alexander Lopez, Luca A. Lotta, Kia Manoochehri, Adam J. Mansfield, Evan K. Maxwell, Jason Mighty, Lyndon J. Mitnaul, Mona Nafde, Jonas B. Nielsen, Sean O’Keeffe, Max Orelus, John D. Overton, Maria Sotiropoulos Padilla, Razvan Panea, Tommy Polanco, Manasi Pradhan, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Thomas D. Schleicher, Alan R. Shuldiner, Katherine Siminovitch, Jeffrey C. Staples, Ricardo H. Ulloa, Niek Verweij, Louis Widom, Sarah E. Wolf, Namiko Abe, François Aguet, Laura Almasy, Seth A. Ament, Peter H. Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, 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, Takis Benos, Marcos Bezerra, Larry Bielak, 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, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Christy Chang, Yi‐Cheng Chang, Bo-Juen Chen, Weimin Chen, Yii-Der Ida Chen, Lee‐Ming Chuang, 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, Sean 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 Eaton, Lynette Ekunwe, Adel Boueiz, Leslie S. 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, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, Mark W. Geraci, Søren Germer, Robert E. Gerszten, Auyon Ghosh, Richard C. Gibbs, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da‐Wei Gong, Harald Göring, Sharon Graw, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, David M. Haas, Jeff Haessler, Michael Hall, Yi Han, Patrick J. Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian D. Hobbs, 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 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, 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, 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 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, 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, James S. Pankow, George Papanicolaou, Gina M. Peloso, Juan M. Peralta, Marco Perez, James A. Perry, Patricia A. Peyser, Lawrence S. Phillips, Jacob Pleiness, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Mahitha Rajendran, Ramachandran S. Vasan, D. C. Rao, Laura J. Rasmussen‐Torvik, Aakrosh Ratan, Robert M. Reed, Catherine Reeves, Elizabeth A. Regan, Alex Reiner, Muagututi‘a Sefuiva Reupena, Kenneth Rice, Stephen S. Rich, Rébecca Robillard, Nicolas Robine, Jerome I. Rotter, Ingo Ruczinski, Alexi Runnels, Pamela Russell, Sarah Ruuska, Kathleen Ryan, Éster Cerdeira Sabino, Danish Saleheen, Shabnam Salimi, Sejal Salvi, Steven L. Salzberg, Kevin Sandow, Vijay G. Sankaran, Jireh Santibanez, Karen Schwander, David A. Schwartz, Frank C. Sciurba, Christine Seidman, Jonathan G. Seidman, Frédéric Sériès, Vivien Sheehan, Stephanie L. Sherman, Amol C. Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, Brian Silver, Edwin K. Silverman, Robert Skomro, Albert V. Smith, Jennifer A. Smith, J. G. Smith, Tanja Smith, Sylvia Smoller, Beverly M. Snively, M Snyder, Tamar Sofer, Adrienne M. Stilp, Garrett Storm, Elizabeth A. Streeten, Jessica Lasky‐Su, Jody Sylvia, Adam A. Szpiro, Daniel Taliun, Hua Tang, Margaret A. Taub, Kent D. Taylor, Matthew D. Taylor, Simeon I. Taylor, Marilyn J. Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley F. Tinker, David Tirschwell, Sarah A. Tishkoff, Hemant Tiwari, Catherine Tong, Russell P. Tracy, Michael Tsai, Dhananjay Vaidya, David Van Den Berg, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert B. Wallace, Avram Walts, Fei Fei Wang, Heming Wang, Jiongming Wang, Karol E. Watson, Jennifer Watt, Daniel E. Weeks, Joshua Weinstock, Bruce S. Weir, Scott T. Weiss, Jennifer Wessel, Cristen J. Willer, Kayleen Williams, L. Keoki Williams, Carla G. Wilson, James G. Wilson, Lara Winterkorn, Quenna Wong, Joseph C. Wu, Huichun Xu, Lisa R. Yanek, Ivana V. Yang, Ketian Yu, Seyedeh M. Zekavat, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Xiaofeng Zhu, Michael C. Zody, Sebastian Zoellner, Hilma Hólm, Kāri Stefánsson, Christian T. Ruff, Marc S. Sabatine, Kathryn L. Lunetta, Steven A. Lubitz, Patrick T. Ellinor

Bibliographic record

VenueNature Genetics · 2025

Typereview

Languageen

FieldMedicine

TopicCardiomyopathy and Myosin Studies

Canadian institutionsMcGill UniversityUniversity of OttawaUniversity of CalgaryProvidence Health CareHamilton Health SciencesMcMaster UniversityUniversité LavalUniversity of SaskatchewanUniversité de MontréalPopulation Health Research InstituteUniversity of British ColumbiaWestern University

FundersNational Heart, Lung, and Blood InstituteNational Institute of Biomedical Imaging and BioengineeringCanadian Institutes of Health ResearchNational Institutes of HealthNational Institute on AgingStiftelsen för Strategisk ForskningSkånes universitetssjukhusSchweizerische HerzstiftungVetenskapsrådetKnut och Alice Wallenbergs StiftelseLunds UniversitetU.S. Department of Veterans AffairsSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNovo NordiskHjärt-LungfondenMinistry of Education, Culture, Sports, Science and TechnologyBritish Heart FoundationNational Institute of Mental HealthTokyo Medical and Dental UniversityUniversität BaselBundesministerium für Bildung und ForschungNational Science FoundationMassachusetts General HospitalSarnoff Cardiovascular Research FoundationStiftelsen för Strategisk ForskningFoundation for Cardiovascular ResearchNovo Nordisk FondenHeart and Stroke Foundation of CanadaHartstichtingFoundation for the National Institutes of HealthAmerican Heart AssociationFondation LeducqAmsterdam University Medical CentersDeutsche ForschungsgemeinschaftSvenska Sällskapet för Medicinsk ForskningEuropean CommissionJapan Society for the Promotion of ScienceDeutsches Zentrum für Herz-Kreislaufforschung

KeywordsBiologyLMNAExome sequencingGeneticsAtrial fibrillationExomeTranscriptomeGenetic architectureGenePhenotypeInternal medicineBioinformaticsMedicine

DOI10.1038/s41588-025-02074-9

Abstract

fetched live from OpenAlex

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000

metaresearch head score (Gemma)0.001

Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated

Candidate categoriesMeta-epidemiology (narrow)

Consensus categoriesnone

DomainCandidate signal: none · Consensus signal: none

Study designCandidate signal: Other design · Consensus signal: none

GenreCandidate signal: Review · Consensus signal: Review

Teacher disagreement score0.970

Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

Category	Codex	Gemma
Metaresearch	0.000	0.001
Meta-epidemiology (narrow)	0.000	0.000
Meta-epidemiology (broad)	0.001	0.000
Bibliometrics	0.000	0.000
Science and technology studies	0.000	0.000
Scholarly communication	0.000	0.000
Open science	0.000	0.000
Research integrity	0.001	0.001
Insufficient payload (model declined to judge)	0.000	0.000

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 head0.049

GPT teacher head0.371

Teacher spread0.322 · how far apart the two teachers sit on this one work

Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it