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Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

2000· article· en· W2070426414 on OpenAlexaff
Charles R. Scriver, Piotr Nowacki, Heikki Lehv�slaiho

Bibliographic record

VenueHuman Mutation · 2000
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsMontreal Children's HospitalMcGill University
Fundersnot available
KeywordsBiologyDatabaseRedundancy (engineering)Software deploymentLocus (genetics)GeneticsComputational biologyGeneComputer scienceSoftware engineering

Abstract

fetched live from OpenAlex

The HUGO Mutation Database Initiative has produced guidelines and recommendations addressing uniform nomenclature of (human) genes and alleles, and computing standards to permit a moderate level of built-in redundancy, searchable interfaces, and compatibility between the comprehensive (genomic) and locus-specific types of databases. The participating community (developers and users) have been moving the project along rapidly, as described here.

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 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)0.066
metaresearch head score (Gemma)0.108
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Reporting · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.934
Threshold uncertainty score0.347

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0660.108
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0110.010
Science and technology studies0.0020.002
Scholarly communication0.0120.013
Open science0.0100.005
Research integrity0.0100.007
Insufficient payload (model declined to judge)0.0180.037

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 head0.081
GPT teacher head0.358
Teacher spread0.277 · 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.

Study designTheoretical or conceptual
DomainReporting
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

Citations43
Published2000
Admission routes1
Has abstractyes

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