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The power of genetic diversity in genome-wide association studies of lipids
Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni, Greg J. M. Zajac, Shweta Ramdas, Ida Surakka, Ioanna Ntalla, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Mi Yeong Hwang, Sohee Han, Akira Narita, Ananyo Choudhury, Amy R. Bentley, Kenneth Ekoru, Anurag Verma, Bhavi Trivedi, Hilary C. Martin, Karen A. Hunt, Qin Hui, Derek Klarin, Xiang Zhu, Gudmar Thorleifsson, Anna Helgadóttir, Daníel F. Guðbjartsson, Hilma Hólm, Isleifur Olafsson, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben Brumpton, Humaira Rasheed, Sanni Ruotsalainen, Aki S. Havulinna, Yogasudha Veturi, QiPing Feng, Elisabeth A. Rosenthal, Todd Lingren, Jennifer A. Pacheco, Sarah A. Pendergrass, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, George Hindy, Asif Rasheed, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian’an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina‐Gómez, Achilleas Pitsillides, Jouke‐Jan Hottenga, Gonneke Willemsen, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Jie Yao, Ani Manichaikul, Helen R. Warren, Julia Ramírez, Jette Bork‐Jensen, Line Lund Kårhus, Anuj Goel, Maria Sabater‐Lleal, Raymond Noordam, Carlo Sidore, Edoardo Fiorillo, Aaron F. McDaid, Pedro Marques‐Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Møllehave, Betina H. Thuesen, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, E. Warwick Daw, Joseph M. Zmuda, Jonathan S. Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A. Brody, Mary F. Feitosa, Mary K. Wojczynski, Michael Preuß, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan Walter Benjamins, Jorgen Engmann, Rachel L. Kember, Roderick C. Slieker, Ken Sin Lo, Nuno R. Zilhäo, Phuong Le, Marcus E. Kleber, Graciela E. Delgado, Shaofeng Huo, Daisuke D. Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Hampton L. Leonard, Jonathan Marten, Börge Schmidt, Marina Arendt, Laura J. Smyth, Marisa Cañadas‐Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri‐Kähönen, Xueling Sim, Rui Xia, Alicia Huerta‐Chagoya, Juan Carlos Fernández-López, Valeriya Lyssenko, Meraj Ahmed, Anne Jackson, Noha A. Yousri, Marguerite R. Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R. H. J. Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A. Lange, Xiaoran Chai, Gauri Prasad, Laura Lorés‐Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N. Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C. Warner, Ya Xing Wang, Wen Bin Wei, Teresa Nutile, Daniela Ruggiero, Yi‐Jen Hung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A. Kentistou, Mathias Gorski, Marco Brumat, Karina Meidtner, Lawrence F. Bielak, Jennifer A. Smith, Prashantha Hebbar, Aliki‐Eleni Farmaki, Edith Hofer, Maoxuan Lin, Chao Xue, Jifeng Zhang, Maria Pina Concas, Simona Vaccargiu, Peter J. van der Most, Niina Pitkänen, Brian E. Cade, Jiwon Lee, Sander W. van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiß, Martina E. Zimmermann, Jong‐Young Lee, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W. Rayner, Carol A. Wang, Shih-Yi Lin, Jun‐Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuéllar-Partida, Henrik Vestergaard, Bertha Hildalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O. Obura, Jessica van Setten, Xiaoyin Li, Karen Schwander, Natalie Terzikhan, Jae Hun Shin, Rebecca D. Jackson, Alex P. Reiner, Lisa W. Martin, Zhengming Chen, Liming Li, Heather M. Highland, Kristin L. Young, Takahisa Kawaguchi, Joachim Thiery, Joshua C. Bis, Girish N. Nadkarni, Lenore J. Launer, Huaixing Li, Mike A. Nalls, Olli T. Raitakari, Sahoko Ichihara, Sarah H. Wild, Christopher P. Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al‐Mulla, Harri Niinikoski, Peter S. Braund, Ivana Kolčić, Péter Kovács, Tota Giardoglou, Tomohiro Katsuya, Konain Fatima Bhatti, Dominique P.V. de Kleijn, Gert J. de Borst, Eung Kweon Kim, Hieab H.H. Adams, M. Arfan Ikram, Xiaofeng Zhu, Folkert W. Asselbergs, Adriaan O. Kraaijeveld, Joline W. J. Beulens, Xiao-Ou Shu, Loukianos S. Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W. Hewitt, Mika Kähönen, Louis Përusse, Claude Bouchard, Anke Tönjes, Yii‐Der Ida Chen, Craig E. Pennell, Trevor A. Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon‐Puay Koh, Sang Youl Rhee, Jeong‐Taek Woo, Iris M. Heid, Klaus Stark, Henry Völzke, Georg Homuth, Michele K. Evans, Alan B. Zonderman, Ozren Polašek, Gerard Pasterkamp, Imo E. Hoefer, Susan Redline, Katja Pahkala, Albertine J. Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Y. Eugene Chen, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon L. R. Kardia, Norihiro Kato, Matthias B. Schulze, Giorgia Girotto, Bettina Jung, Carsten A. Böger, Peter K. Joshi, David Bennett, Philip L. De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J. Caulfield, Patricia B. Munroe, Xiuqing Guo, Marina Ciullo, Jost B. Jonas, Nilesh J. Samani, Jaakko Kaprio, Päivi Pajukanta, Linda S. Adair, Sonny Augustin Bechayda, H Janaka de Silva, Ronald M. Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke I. den Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G. Wilson, Lars Lind, Chew‐Kiat Heng, Amanda E. Nelson, Yvonne M. Golightly, James F. Wilson, Brenda W.J.H. Penninx, Hyung‐Lae Kim, John Attia, Rodney J. Scott, D. C. Rao, Donna K. Arnett, Steven C. Hunt, Mark Walker, Heikki A. Koistinen, Giriraj R. Chandak, Chittaranjan S. Yajnik, Josep M. Mercader, Teresa Tusié‐Luna, Carlos A. Aguilar‐Salinas, Clicerio González Villalpando, Lorena Orozco, Myriam Fornage, E Shyong Tai, Rob M. van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F. Reilly, Amy Jayne McKnight, Frank Kee, Karl‐Heinz Jöckel, Mark I. McCarthy, Véronique Vitart, Caroline Hayward, Eleanor M. Simonsick, Cornelia M. van Duijn, Fan Lü, Jia Qu, Haretsugu Hishigaki, Lin Xu, Winfried März, Esteban J. Parra, Miguel Cruz, Vilmundur Guðnason, Jean‐Claude Tardif, Guillaume Lettre, Leen M. ‘t Hart, Petra J. M. Elders, Scott M. Damrauer, Meena Kumari, Mika Kivimäki, Pim van der Harst, Tim D. Spector, Ruth J. F. Loos, Michael A. Province, Bruce M. Psaty, Ivan Brandslund, Peter P. Pramstaller, Kaare Christensen, Samuli Ripatti, Elisabeth Widén, Håkon Håkonarson, Struan F.A. Grant, Lambertus A. Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W. Franks, Allan Linneberg, J. Wouter Jukema, Amit Khera, Minna Männikkö, Marjo‐Riitta Järvelin, Zoltán Kutalik, Francesco Cucca, Dennis O. Mook‐Kanamori, Ko Willems van Dijk, Hugh Watkins, David P. Strachan, Niels Grarup, Peter Sever, Neil Poulter, Jerome I. Rotter, Thomas Meinertz Dantoft, Fredrik Karpe, Matt J. Neville, Nicholas J. Timpson, Ching‐Yu Cheng, Tien Yin Wong, Chiea Chuen Khor, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T. Hattersley, Nancy L. Pedersen, Patrik K. E. Magnusson, Eco J. C. de Geus, L. Adrienne Cupples, Joyce B. J. van Meurs, Mohsen Ghanbari, Penny Gordon‐Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J. Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Gonçalo R. Abecasis, John C. Chambers, Jaspal S. Kooner, Paul S. de Vries, Alanna C. Morrison, Kari E. North, Martha L. Daviglus, Peter Kraft, Nicholas G. Martin, John B. Whitfield, Shahid Abbas, Danish Saleheen, Robin Walters, Michael V. Holmes, Corri Black, Blair H. Smith, Anne E. Justice, Aris Baras, Julie E. Buring, Paul M. Ridker, Daniel I. Chasman, Charles Kooperberg, Wei-Qi Wei, Gail P. Jarvik, Bahram Namjou, M. Geoffrey Hayes, Marylyn D. Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yukinori Okada, Yoshinori Murakami, Unnur Thorsteinsdottir, Kari Stefansson, Yuk‐Lam Ho, Julie A. Lynch, Daniel J. Rader, Philip S. Tsao, Kyong‐Mi Chang, Kelly Cho, Christopher J. O’Donnell, John Michael Gaziano, Peter W.F. Wilson, Charles N. Rotimi, Scott Hazelhurst, Michèle Ramsay, Richard C. Trembath, David A. van Heel, Gen Tamiya, Masayuki Yamamoto, Bong-Jo Kim, Karen L. Mohlke, Timothy M. Frayling, Joel N. Hirschhorn, Sekar Kathiresan, Michael Boehnke, Pradeep Natarajan, Gina M. Peloso, Christopher D. Brown, Andrew P. Morris, Themistocles L. Assimes, Panos Deloukas, Yan V. Sun, Cristen J. Willer
Bibliographic record
VenueNature · 2021
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité de MontréalUniversité du QuébecUniversity of TorontoUniversité LavalMontreal Heart Institute
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteNational Center for Chronic Disease Prevention and Health PromotionNational Institute on AgingEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentEconomic and Social Research CouncilMedical Research CouncilNational Institutes of HealthCancer Research UKNovo Nordisk FondenLundbeckfondenPublic Health AgencyMcKnight FoundationBarts CharityOffice of Research and DevelopmentNational Cancer InstituteBritish Heart FoundationNational Human Genome Research InstituteWellcome TrustNational Institute for Health and Care ResearchU.S. Department of Veterans Affairs
KeywordsGenome-wide association studyGenetic diversityGenomeBiologyAssociation (psychology)Diversity (politics)GeneticsEvolutionary biologyGenetic associationComputational biologyGeneSingle-nucleotide polymorphismGenotypeMedicinePsychologyEnvironmental healthPopulationPolitical science
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)0.006
metaresearch head score (Gemma)0.009
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Systematic review · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.006
Threshold uncertainty score0.031
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.006 | 0.009 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.004 | 0.001 |
| Bibliometrics | 0.003 | 0.004 |
| Science and technology studies | 0.000 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.003 | 0.004 |
| Insufficient payload (model declined to judge) | 0.002 | 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 head0.024
GPT teacher head0.322
Teacher spread0.298 · 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 designSystematic review
Domainnot available
GenreReview
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
Citations1,054
Published2021
Admission routes1
Has abstractno