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Record W4200098900 · doi:10.1016/j.gim.2021.08.014

Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

2021· article· en· W4200098900 on OpenAlexafffundabout
Matthew Osmond, Taila Hartley, David A. Dyment, Kristin D. Kernohan, Michael Brudno, Orion J. Buske, A. Micheil Innes, Kym M. Boycott, François P. Bernier, Clara van Karnebeek, Micheil Innes, Ryan E. Lamont, Jillian S. Parboosingh, Deborah A. Marshall, Christian R. Marshall, Roberto Mendoza‐Londono, James J. Dowling, Robin Z. Hayeems, Bartha Maria Knoppers, Anna Lehman, Sara Mostafavi

Bibliographic record

VenueGenetics in Medicine · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsAlberta Children's HospitalUniversity of TorontoNewborn Screening OntarioUniversity Health NetworkUniversity of CalgaryChildren's Hospital of Eastern OntarioUniversity of Ottawa
FundersGenome AlbertaGenome British ColumbiaCanadian Institutes of Health ResearchGenome CanadaChildren's Hospital of Eastern Ontario FoundationOntario GenomicsOntario Research FoundationOntario Genomics Institute
KeywordsMultidisciplinary approachInheritance (genetic algorithm)GeneDiseasePhenotypeExome sequencingExomeCandidate geneCausality (physics)Computational biologyGeneticsMedicineBiologyPolitical scienceInternal medicine

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 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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.171
Threshold uncertainty score0.997

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 head0.021
GPT teacher head0.290
Teacher spread0.269 · 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 teacher head, 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

Citations26
Published2021
Admission routes3
Has abstractyes

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