A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13
Bibliographic record
Abstract
AUTORES: Elizabeth J. Leslie1, Jenna C. Carlson1,2, John R. Shaffer1,3, Eleanor Feingold1,2,3, George Wehby4, Cecelia A. Laurie5, Deepti Jain5, Cathy C. Laurie5, Kimberly F. Doheny6, Toby McHenry1, Judith Resick1, Carla Sanchez1, Jennifer Jacobs1, Beth Emanuele1, Alexandre R. Vieira1,3, Katherine Neiswanger1, Andrew C. Lidral7, Luz Consuelo Valencia-Ramirez11, Ana Maria Lopez-Palacio12, Dora Rivera Valencia13, Mauricio Arcos-Burgos14, Andrew E. Czeizel15, L. Leigh Field16, Carmencita D. Padilla17,18, Eva Maria, C. Cutiongco-de la Paz17,18, Frederic Deleyiannis19, Kaare Christensen20, Ronald G. Munger21, Rolv T. Lie22, Allen Wilcox23, Paul A. Romitti8, Eduardo E. Castilla24,25,26, Juan C. Mereb28, Fernando A. Poletta24,25,26,I^eda M. Orioli26,27, Flavia M. Carvalho25,26, Jacqueline T. Hecht29, Susan H. Blanton30, Carmen J. Bux o31, Azeez Butali9, Peter A. Mossey32, Wasiu L. Adeyemo33, Olutayo James33, Ramat O. Braimah34, Babatunde S. Aregbesola34, Mekonen A. Eshete35, Fikre Abate35, Mine Koruyucu36, Figen Seymen36, Lian Ma37, Javier Enr ıquez de Salamanca38, Seth M. Weinberg1, Lina Moreno7, Jeffrey C. Murray10 and Mary L. Marazita1,3,39,* INSTITUIÇÕES: 1Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA, 2Department of Biostatistics and 3Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA, 4Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52246, USA, 5Department of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WA 98195, USA, 6Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MD 21224, USA, 7Department of Orthodontics and 8Department of Epidemiology, College of Public Health, 9Department of Oral Pathology, Radiology and Medicine, Dows Institute for Dental Research, College of Dentistry, and 10Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA, 11Fundaci on Cl ınica Noel, Medellin 050012, Colombia, 12Department of Basic Integrated Studies, College of Dentistry and 13Population Genetics and Mutacarcinogenesis Group, University of Antioquia, Medellin 050001, Colombia, 14Genomics and Predictive Medicine, Genome Biology Department, John Curtin School of Medical Research, ANU College of Medicine, Biology & Environment, The Australian National University, Canberra, ACT 0200, Australia, 15Foundation for the Community Control of Hereditary Diseases, Budapest 1051, Hungary, 16Department of Medical Genetics, University of British Columbia, Vancouver V6H 3N1, Canada, 17Department of Pediatrics, College of Medicine; and Institute of Human Genetics, National Institutes of Health; University of the Philippines Manila, Manilla, The Philippines 1000 and 18Philippine Genome Center, University of the Philippines System, Manilla, The Philippines 1101, 19Department of Surgery, Plastic and Reconstructive Surgery, University of Colorado School of Medicine, Denver, CO 80045, USA, 20Department of Epidemiology, Institute of Public Health, University of Southern Denmark, Odense DK-5230 Denmark, 21Department of Nutrition, Dietetics, and Food Sciences, Utah State University, Logan, UT 84322, USA, 22Department of Global Public Health and Primary Care, University of Bergen, Bergen, NO-5020 Norway, 23Epidemiology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA, 24CEMIC: Center for Medical Education and Clinical Research, Buenos Aires 1431, Argentina, 25Laboratory of Congenital Malformation Epidemiology, Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro 21040-360, Brazil, 26ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) and 27Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro 21941-617, Brazil, 28ECLAMC (Latin American Collaborative Study of Congenital Malformations) at Hospital de Area, El Bolson 8430, Argentina, 29Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA, 30Dr. John T.Macdonald Foundation Department of Human Genetics,Hussman Institute for Human Genomics, Mailman School of Medicine, University ofMiami, Miami, FL 33124,USA, 31School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico 00936, 32Department of Orthodontics, University of Dundee, Dundee DD1 4HN, Scotland, 33Department of Oral and Maxillofacial Surgery. College of Medicine, University of Lagos, Lagos P.M.B. 12003, Nigeria, 34Department of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ife-Ife P.M.B. 13, Nigeria, 35Surgical Department, School of Medicine, Addis Ababa University, Addis Ababa, P.O. Box 26493, Ethiopia, 36Department of Pedodontics, Istanbul University, Istanbul 34116, Turkey, 37Peking University, School of Stomatology, Beijing 100081, China, 38Hospital Infantil Universitario Ni~no Jes us; Unidad de Cirug ıa Pl astica, Madrid 28009, Spain and 39Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.
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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) | 0.000 | 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 | 0.000 | 0.000 |
| 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".