MétaCan
Menu
Back to cohort
Record W4291020646 · doi:10.1186/s13073-022-01094-y

Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank

2022· article· en· W4291020646 on OpenAlexfundno aff
Matthew T. Patrick, Redina Bardhi, Wei Zhou, James T. Elder, Jóhann E. Guðjónsson, Lam C. Tsoi

Bibliographic record

VenueGenome Medicine · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsnot available
FundersMedical Research CouncilNational Institutes of HealthRare Disease FoundationUniversity of MichiganHelene Morgan Babcock and Alfred Babcock Memorial Scholarship TrustPenn Skin Biology and Diseases Resource-based Center, University of PennsylvaniaA. Alfred Taubman Medical Research InstituteDermatology FoundationNational Institute of Arthritis and Musculoskeletal and Skin DiseasesFoundation for the National Institutes of Health
KeywordsBiobankPhenomePopulationMedicineDiseaseRare diseaseBioinformaticsGeneticsBiologyPhenotypePathologyEnvironmental health

Abstract

fetched live from OpenAlex

OpenAlex records an abstract for this work, but it could not be fetched just now.

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)0.007
metaresearch head score (Gemma)0.037
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: none
Teacher disagreement score0.020
Threshold uncertainty score0.068

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.037
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0010.003
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0200.005

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 head0.010
GPT teacher head0.229
Teacher spread0.219 · 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 designSimulation or modeling
Domainnot available
GenreMethods

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

Citations15
Published2022
Admission routes1
Has abstractyes

Explore more

Same venueGenome MedicineSame topicGenomics and Rare DiseasesFrench-language works237,207