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Record W3010206546 · doi:10.1136/jmedgenet-2019-106368

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

2020· review· en· W3010206546 on OpenAlexaff
Álvaro N.A. Monteiro, Arne Nedergaard Kousholt, Diana Eccles, Gaël A. Millot, Jean‐Yves Masson, Marjanka K. Schmidt, Shyam K. Sharan, Ralph Scully, Lisa Wiesmüller, Fergus J. Couch, Maaike P.G. Vreeswijk

Bibliographic record

VenueJournal of Medical Genetics · 2020
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversité Laval
FundersNational Cancer InstituteNederlandse Organisatie voor Wetenschappelijk OnderzoekKoninklijke Nederlandse Akademie van WetenschappenAgence Nationale de la Recherche
KeywordsAnnotationGynecologyGenePublicsLibrary scienceGeneticsOncologyBiologyMedicinePolitical scienceComputer science

Abstract

fetched live from OpenAlex

de niveau recherche, publis ou non, manant des tablissements d'enseignement et de recherche franais ou trangers, des laboratoires publics ou privs.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

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)0.004
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.976
Threshold uncertainty score0.986

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
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 head0.203
GPT teacher head0.493
Teacher spread0.290 · 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 designOther design
Domainnot available
GenreReview

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

Citations46
Published2020
Admission routes1
Has abstractyes

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