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Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Ching‐Yu Cheng, Maria Schäche, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Véronique Vitart, Stuart MacGregor, Virginie J. M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, Pirro G. Hysi, Joan E. Bailey‐Wilson, Beaté St Pourcain, John P. Kemp, George McMahon, Nicholas J. Timpson, David M. Evans, Grant W. Montgomery, Aniket Mishra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polašek, Alan F. Wright, Najaf Amin, James F. Wilson, Craig E. Pennell, Cornelia M. van Duijn, Paulus T.V.M. de Jong, Johannes R. Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Kathryn P. Burdon, Jamie E. Craig, Sudha K. Iyengar, Robert P. Igo, Jonathan H. Lass, William J. Reinhart, Michael W. Belin, Robert L. Schultze, Todd Morason, Alan Sugar, Shahzad I. Mian, Kathryn Colby, Ula V. Jurkunas, Richard W. Yee, Mark Vital, Eduardo García Alfonso, Carol L. Karp, Yunhee Lee, Sonia H. Yoo, K.M. Hammersmith, Elisabeth J. Cohen, Peter R. Laibson, Christopher J. Rapuano, Brandon D. Ayres, Christopher R. Croasdale, James W. Caudill, Sanjay Patel, Keith H. Baratz, William M. Bourne, Leo J. Maguire, Joel Sugar, Elmer Y. Tu, Ali R. Djalilian, Vinod V. Mootha, James P. McCulley, Wayne Bowman, H. Dwight Cavanaugh, Steven M. Verity, David D. Verdier, A. Renucci, Matt Oliva, Walter M. Rotkis, David R. Hardten, Ahmad Fahmy, Marlene Brown, Sherman W. Reeves, Elizabeth A. Davis, Richard L. Lindstrom, Scott Hauswirth, Stephen R. Hamilton, W. Barry Lee, Francis W. Price, Marianne O. Price, Kathleen Kelly, Faye Peters, Michael F. Shaughnessy, Thomas L. Steinemann, B.J. Dupps, David M. Meisler, Mark D. Mifflin, Randal S. Olson, Anthony J. Aldave, Gary N. Holland, Bartly J. Mondino, George O. D. Rosenwasser, Mark Gorovoy, Steven P. Dunn, David G. Heidemann, Mark A. Terry, Neda Shamie, Steven I. Rosenfeld, Brandon Suedekum, David G. Hwang, Donald U. Stone, James Chodosh, Paul Galentine, David S. Bardenstein, Katrina A.B. Goddard, Hemin Chin, Mark J. Mannis, Rohit Varma, Ingrid B. Borecki, Emily Y. Chew, Toomas Haller, Evelin Mihailov, Andres Metspalu, Juho Wedenoja, Claire L. Simpson, Robert Wojciechowski, René Höhn, Alireza Mirshahi, Tanja Zeller, Norbert Pfeiffer, Karl J. Lackner, Thomas Bettecken, Thomas Meitinger, Konrad Oexle, Mario Pirastu, Laura Portas, Abhishek Nag, Katie Williams, Ekaterina Yonova‐Doing, Ronald Klein, Barbara E.K. Klein, S. Mohsen Hosseini, Andrew D. Paterson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Olli T. Raitakari, Nagahisa Yoshimura, Fumihiko Matsuda, Li Jia Chen, Chi Pui Pang, Shea Ping Yip, Maurice Yap, Akira Meguro, Nobuhisa Mizuki, Hidetoshi Inoko, Paul J. Foster, Wei Zhao, Eranga N. Vithana, E Shyong Tai, Qiao Fan, Liang Xu, Harry Campbell, Brian W. Fleck, Igor Rudan, Tin Aung, Albert Hofman, André G. Uitterlinden, Goran Benčić, Chiea Chuen Khor, Hannah Forward, Olavi Pärssinen, Paul Mitchell, Fernando Rivadeneira, Alex W. Hewitt, Cathy Williams, Ben A. Oostra, Yik‐Ying Teo, Christopher J. Hammond, Dwight Stambolian, David A. Mackey, Caroline C. W. Klaver, Tien Yin Wong, Seang‐Mei Saw, Paul N. Baird
Bibliographic record
VenueThe American Journal of Human Genetics · 2013
Typereview
Languageen
FieldMedicine
TopicOphthalmology and Visual Impairment Studies
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Eye InstituteMedical Research CouncilNational Institute for Health and Care ResearchWellcome Trust
KeywordsBiologyLocus (genetics)GeneticsGenome-wide association studyGenetic associationRefractive errorGenomeGeneRefractionGenotypeSingle-nucleotide polymorphismEye diseaseOptics
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)0.001
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: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.007
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.003 | 0.004 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| 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 head0.172
GPT teacher head0.457
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
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
Citations160
Published2013
Admission routes1
Has abstractno