MétaCan
Menu
Back to cohort
Record W4408502018 · doi:10.1016/j.gimo.2025.103048

P679: Functional studies in fibroblasts cultured from patients with inborn errors of vitamin B12 metabolism

2025· article· en· W4408502018 on OpenAlexaff
Brian M. Gilfix, David Watkins, David S. Rosenblatt

Bibliographic record

VenueGenetics in Medicine Open · 2025
Typearticle
Languageen
FieldMedicine
TopicFolate and B Vitamins Research
Canadian institutionsMcGill University Health Centre
Fundersnot available
KeywordsVitamin B12MetabolismInborn error of metabolismCyanocobalaminMedicineEndocrinologyInternal medicineBiochemistryChemistry

Abstract

fetched live from OpenAlex

95% of DPD deficiencies within the population.In addition, validation of an in-house DPYD full gene sequencing is in progress to detect rare variants other than the most common ones.Results: So far, 202 cancer patients have been subjected to DPYD genotyping prior to chemotherapy.Thirteen of them were detected to have a reduced function or non-function allele, which accounts for ~6.5% in patient population.Their doses of 5-FU/capecitabine were adjusted accordingly to prevent the risk of severe side effects.Conclusion: DPYD testing allows for the early detection of DPD deficiencies, which improves patient outcomes by adjusting the dosage of fluoropyrimidine drugs used in chemotherapy treatment, overall reducing the risk of severe side effects.Local availability of these tests allows cancer patients to access safe, effective treatment much faster.

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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0050.002

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 head0.064
GPT teacher head0.389
Teacher spread0.325 · 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 designBench or experimental
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

Citations0
Published2025
Admission routes1
Has abstractno

Explore more

Same venueGenetics in Medicine OpenSame topicFolate and B Vitamins ResearchFrench-language works237,207