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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Milly S. Tedja, Robert Wojciechowski, Pirro G. Hysi, Nicholas Eriksson, Nicholas A. Furlotte, Virginie J. M. Verhoeven, Adriana I. Iglesias, Magda A. Meester‐Smoor, Stuart W. Tompson, Qiao Fan, Anthony P. Khawaja, Ching‐Yu Cheng, René Höhn, Kenji Yamashiro, Adam S Wenocur, Clare Grazal, Toomas Haller, Andres Metspalu, Juho Wedenoja, Jost B. Jonas, Ya Xing Wang, Jing Xie, Paul Mitchell, Paul J. Foster, Ronald Klein, Andrew D. Paterson, S. Mohsen Hosseini, Rupal Shah, Cathy Williams, Yik Ying Teo, Yih Chung Tham, Preeti Gupta, Wanting Zhao, Yuan Shi, Woei‐Yuh Saw, E Shyong Tai, Xueling Sim, Jennifer E. Huffman, Ozren Polašek, Caroline Hayward, Goran Benčić, Igor Rudan, James F. Wilson, Peter K. Joshi, Akitaka Tsujikawa, Fumihiko Matsuda, Kristina N. Whisenhunt, Tanja Zeller, Peter J. van der Spek, Roxanna Haak, Hanne Meijers-Heijboer, Sudha K. Iyengar, Jonathan H. Lass, Albert Hofman, Fernando Rivadeneira, André G. Uitterlinden, Johannes R. Vingerling, Terho Lehtimäki, Olli T. Raitakari, Ginevra Biino, Maria Pina Concas, Tae-Hwi Schwantes-An, Robert P. Igo, Gabriel Cuéllar-Partida, Nicholas G. Martin, Jamie E. Craig, Puya Gharahkhani, Katie Williams, Abhishek Nag, Jugnoo S. Rahi, Phillippa Cumberland, Cécile Delcourt, Céline Bellenguez, Janina S. Ried, Arthur A. Bergen, Thomas Meitinger, Christian Gieger, Tien Yin Wong, Alex W. Hewitt, David A. Mackey, Claire L. Simpson, Norbert Pfeiffer, Olavi Pärssinen, Paul N. Baird, Véronique Vitart, Najaf Amin, Cornelia M. van Duijn, Joan E. Bailey‐Wilson, Terri L. Young, Seang‐Mei Saw, Dwight Stambolian, Stuart MacGregor, Jeremy A. Guggenheim, Joyce Y. Tung, Christopher J. Hammond, Caroline C. W. Klaver
Bibliographic record
VenueNature Genetics · 2018
Typereview
Languageen
FieldMedicine
TopicOphthalmology and Visual Impairment Studies
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Heart, Lung, and Blood InstituteNational Medical Research CouncilNational Health and Medical Research CouncilAlcon Research InstituteStichting Nederlands Oogheelkundig OnderzoekAbbott Diabetes CareNational Institutes of HealthWestmead Millennium Institute for Medical ResearchMoorfields Eye CharityMedical Research CouncilTartu ÜlikoolState Government of VictoriaDiabetes UKOhio Lions Eye Research FoundationAlgemene Nederlandse Vereniging ter voorkoming van BlindheidTampereen YliopistoErasmus Medisch CentrumVrije Universiteit AmsterdamZonMwMoorfields Eye Hospital NHS Foundation TrustMacula SocietyNorthwest Regional Development AgencyNederlandse Organisatie voor Wetenschappelijk OnderzoekFlinders UniversityEuropean CommissionEuropean Regional Development FundKing's College LondonSingapore Eye Research InstituteJyväskylän YliopistoWellcome TrustNational University of SingaporeLandelijke Stichting voor Blinden en SlechtziendenCancer Research UKTurun Yliopistollinen KeskussairaalaStichting Steunfonds UitzichtPfizer AustraliaHorizon 2020 Framework ProgrammeTurun YliopistoHrvatska Zaklada za ZnanostScottish GovernmentQIMR Berghofer Medical Research InstituteBundesministerium für Bildung und ForschungBritish Heart FoundationCase Western Reserve UniversityNational Eye InstituteNational Institute for Health and Care ResearchPfizerInternational Glaucoma AssociationInstitute of GeneticsAgence Nationale de la RechercheBiomedical Research CouncilOphthalmic Research Institute of AustraliaOogfondsEuropean Foundation for the Study of DiabetesAmerican Health Assistance FoundationResearch to Prevent Blindness
KeywordsBiologyRetinaRetinal pigment epitheliumGenetic associationGenome-wide association studyRetinalExtracellular matrixGeneticsBlindnessRefractive errorCell biologyNeuroscienceComputational biologyGeneSingle-nucleotide polymorphismGenotypeEye diseaseOptometryMedicine
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)0.003
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: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.005
Threshold uncertainty score0.015
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.009 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.003 | 0.008 |
| Bibliometrics | 0.001 | 0.003 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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 head0.112
GPT teacher head0.432
Teacher spread0.320 · 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 designMeta-analysis
Domainnot available
GenreEmpirical
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
Citations378
Published2018
Admission routes2
Has abstractno