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Record W4410086068 · doi:10.21203/rs.3.rs-5849564/v2

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

2025· preprint· en· W4410086068 on OpenAlexafffund
Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu, Eline Geens, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Sheetal Uppal, Eugenia Poliakov, Claire‐Marie Dhaenens, Cheryl Y. Gregory‐Evans, Lies H. Hoefsloot, Adriana I. Iglesias, Susanne Kohl, Theresia Zuleger, Tanguy Demaret, Sari Tuupanen, Joke Ruys, Luc Van Os, Elise Platteau, Julie A. Jacob, Sascha Vermeer, Laurence Postelmans, Karin Dahan, Isabelle Maystadt, Florence Rasquin, Alberta A. H. J. Thiadens, Kirk Stephenson, Narin Sheri, Vasily Smirnov, Ian M. MacDonald, Kevin Gregory‐Evans, T. Michael Redmond, Julie De Zaeytijd, Bart P. Leroy, Miriam Bauwens, Elfride De Baere

Bibliographic record

VenueResearch Square · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRetinal Development and Disorders
Canadian institutionsUniversity of AlbertaUniversity of British Columbia
FundersNational Eye InstituteMedical Research CouncilHorizon 2020 Framework ProgrammeInstitute of GeneticsBijzonder Onderzoeksfonds UGentNational Institutes of HealthUniversiteit GentMoorfields Eye Hospital NHS Foundation TrustVlaamse regeringRadboud UniversiteitFonds Wetenschappelijk OnderzoekTrinity College DublinRadboud Universitair Medisch CentrumUniversité de LilleH2020 Marie Skłodowska-Curie ActionsNHS Greater Glasgow and Clyde
KeywordsRPE65MaculopathyMedicineBiologyPsychologyOphthalmologyDemographyEndocrinologyRetinalSociologyRetinopathy

Abstract

fetched live from OpenAlex
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 imitation

Not 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)0.000
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.001

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 head0.028
GPT teacher head0.362
Teacher spread0.334 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine 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
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

Citations1
Published2025
Admission routes2
Has abstractno

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