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Record W2041669067 · doi:10.1080/08035250310024682

Translating knowledge into practice in the "post-genome" era

2004· article· en· W2041669067 on OpenAlexaff
Scriver CR

Bibliographic record

VenueActa Paediatrica · 2004
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsMcGill UniversityMontreal Children's Hospital
Fundersnot available
KeywordsPhenomeHyperphenylalaninemiaGenomicsPhenotypeGenomeGenomic medicineMedicineFunction (biology)Human genomeHypoallergenicGeneticsComputational biologyBioinformaticsBiologyGenePhenylalanineImmunology

Abstract

fetched live from OpenAlex

The Human Genome Project is "completed", but it is only a beginning in the understanding of genomic structure and function. A "human phenome project" is waiting in the wings. The complexity involving a phenotype can be glimpsed, for example, if one enquires into the relationships between mutant phenylalanine hydroxylase (PAH) genotypes and the clinical disorders called PKU/Hyperphenylalaninemia-so called lessons from PKU genotypes and phenotypes. Since genomes speak biochemistry, not phenotype (said RHA Plasterk), for genomics to penetrate medicine, biochemistry and biology must be allies. The ideal translators and ambassadors of the knowledge that must cross the gap between laboratory and bedside are the clinician scientists; restoration of that attenuated community of colleagues is a necessary step in the implementation of genomic medicine.

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)0.077
metaresearch head score (Gemma)0.117
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: none
GenreCandidate signal: Commentary · Consensus signal: Commentary
Teacher disagreement score0.077
Threshold uncertainty score0.405

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0770.117
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0040.028
Scholarly communication0.0190.025
Open science0.0040.017
Research integrity0.0140.014
Insufficient payload (model declined to judge)0.0160.007

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 head0.006
GPT teacher head0.255
Teacher spread0.250 · 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 designTheoretical or conceptual
Domainnot available
GenreCommentary

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

Citations6
Published2004
Admission routes1
Has abstractyes

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