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Record W3016532672 · doi:10.1038/s41436-020-0787-4

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

2020· article· en· W3016532672 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueGenetics in Medicine · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRetinal Development and Disorders
Canadian institutionsUniversity of Alberta
FundersEngineer Research and Development CenterBundesministerium für Bildung und ForschungEuropean Regional Development FundLandelijke Stichting voor Blinden en SlechtziendenInstituto de Salud Carlos IIIStichting BlindenhulpMedical Research CouncilFundación Conchita RábagoFoundation Fighting BlindnessVlaamse regeringStichting tot Verbetering van het Lot der BlindenFondazione RomaUniverzita Karlova v PrazeSouth African Medical Research CouncilUniversity of WashingtonMinistero dell’Istruzione, dell’Università e della RicercaMedical Research Charities GroupBoehringer Ingelheim FondsStichting Steunfonds UitzichtFonds Wetenschappelijk OnderzoekStichting Blinden-PenningAlgemene Nederlandse Vereniging ter voorkoming van BlindheidUniversiteit GentMinistry of Health, State of Israel
KeywordsABCA4Stargardt diseaseProbandGenomicsGeneticsDiseaseBiologyComputational biologyMedicineMutationGenomeInternal medicineGene

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.

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.614
Threshold uncertainty score0.356

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.020
GPT teacher head0.259
Teacher spread0.239 · 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