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Record W4392606737 · doi:10.1016/j.gimo.2024.101419

P520: The Translational Genomics Hub (TGH): A new precision medicine tool at the University of Alberta

2024· article· en· W4392606737 on OpenAlex
Oana Caluseriu, Farah Hassan, Jamil Kassam, Chisom Ezeh, Anjali Jain, Tanya Voth, Roger P. Alexander

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
aboutThe title or abstract carries a Canadian signal from the geographic lexicon.

Bibliographic record

VenueGenetics in Medicine Open · 2024
Typearticle
Languageen
FieldEngineering
TopicBiomedical and Engineering Education
Canadian institutionsHospital for Sick ChildrenWomen and Children’s Health Research InstituteUniversity of Alberta
Fundersnot available
KeywordsGenomicsTranslational medicineComputational biologyPrecision medicineTranslational researchBiologyComputer scienceGeneticsBiotechnologyGenomeGene

Abstract

fetched live from OpenAlex

Unprecedented technological advancements since the beginning of the 21st century have brought genomics to the center of medical care. Multiple challenges remain for the implementation of next generation sequencing in clinical practice including technical, variant interpretation, genotype-phenotype correlation, non-standard lab reporting limitations and the intrinsic dynamic nature of continuous gene/disorder discoveries. Once a negative result or a variant of unknown significance (VUS) is reported on a genetic test, there is little a clinician can do to clarify a suspicion of a genetic disorder in the assessed patient.

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.

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 categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.391
Threshold uncertainty score1.000

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 science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.020
GPT teacher head0.253
Teacher spread0.233 · 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