A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Bibliographic record
Abstract
Terri H Beaty1, Jeffrey C Murray2, Mary L Marazita3, Ronald G Munger4, Ingo Ruczinski1, Jacqueline B Hetmanski1, Kung Yee Liang1, Tao Wu1, Tanda Murray1, M Daniele Fallin1, Richard A Redett5, Gerald Raymond5, Holger Schwender1, Shin C Jin1, Margaret E Cooper3, Martine Dunnwald2, Maria A Mansilla2, Elizabeth Leslie2, Stephen Bullard6, Andrew C Lidral6, Lina M Moreno6, Renato Menezes3, Alexandre R Vieira3, Aline Petrin2, Allen J Wilcox7, Rolv T Lie8, Ethylin W Jabs9, Yah Huei Wu-Chou10, Philip K Chen10, Hong Wang11, Xiaoqian Ye9,12, Shangzhi Huang13, Vincent Yeow14, Samuel S Chong15, Sun Ha Jee16, Bing Shi17, Kaare Christensen18, Doheny Kimberly19, W Pugh Elizabeth19, Ling Hua19, E Castilla Eduardo20, Andrew E Czeizel21, Lian Ma22, L Leigh Field23, Lawrence Brody24, Faith Pangilinan24, James L Mills25, Anne M Molloy26, Peadar N Kirke27, John M Scott26, Mauricio Arcos-Burgos28, and Alan F Scott5 1 Johns Hopkins University, School of Public Health, Baltimore, MD 2 Department of Pediatrics, University of Iowa, Iowa City, IA 3 University of Pittsburgh, School of Dental Medicine, Pittsburgh, PA 4 Utah State University, Logan, UT 5 Johns Hopkins University, School of Medicine, Baltimore, MD 6 University of Iowa, Dept. of Orthodontics, Iowa City, IA 7 NIEHS/NIH, Durham, North Carolina 8 University of Bergen, Bergen, Norway 9 Mt. Sinai Medical School, New York, NY 10 Chang Gung Memorial Hospital, Taoyuan, Taiwan 11 Peking University Health Science Center, Beijing, China 12 Wuhan University, Wuhan, China 13 Peking Union Medical College, Beijing, China 14 KK Women’s & Children’s Hospital, Singapore 15 National University of Singapore, Singapore 16 Yonsei University, Epidemiology & Health Promotion, Seoul, Korea 17 West China School of Stomatology, Chengdu, China 18 University of Southern Denmark, Odense, Denmark 19 Center for Inherited Disease Research, Johns Hopkins University, Baltimore MD 20 Department of Genetics, FIOCRUZ, Rio de Janeiro, Brazil 21 Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary 22 School of Stomatology, Beijing University, Beijing, China 23 Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada 24 NHGRI/NIH, Bethesda MD 25 NICHD/NIH, Bethesda, MD 26 Trinity College Dublin, Dublin, Ireland 27 Health Research Board, Dublin, Ireland 28 University of Miami, Miller School of Medicine, Miami, FL.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| 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 | 0.001 |
| 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.
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 teacher head, not a consensus.
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".