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Record W3155940572 · doi:10.18192/uojm.v10i2.4825

Genetics and Medicine Collaborative Effort: Can targeted genetic testing aid in early disease detection and improve patient outcomes?

2021· article· en· W3155940572 on OpenAlexaffvenue
Abanoub Aziz Rizk, George Botros, Ahmed Al-Izzi

Bibliographic record

VenueUniversity of Ottawa Journal of Medicine · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversity of GuelphUniversity of Ottawa
Fundersnot available
KeywordsMedicinePersonalized medicinePsychological interventionDiseasePrecision medicineGenetic testingMedical geneticsHealth careBioinformaticsPsychiatryBiologyGeneticsPathology

Abstract

fetched live from OpenAlex

An increasing attention on preventative medicine promises to remodel healthcare by using proactive approaches designed to avert and avoid potential diseases from being introduced to the patient. Genetic screening is a subset of health program measures that is purposely designed to be offered to asymptomatic individuals in favour for providing promising forms of early treatment. Whilst many diseases are multifactorial in nature, an early detection of the disorder can aid in tailoring effective medical interventions to the patient. This article will discuss implementing early genetic screening with the aim to promote greater collaboration between the field of genetics and 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)0.031
metaresearch head score (Gemma)0.062
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.031
Threshold uncertainty score0.162

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0310.062
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0030.003
Scholarly communication0.0060.004
Open science0.0010.008
Research integrity0.0050.004
Insufficient payload (model declined to judge)0.0110.002

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 head0.007
GPT teacher head0.225
Teacher spread0.218 · 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 designObservational
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
Published2021
Admission routes2
Has abstractyes

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Same venueUniversity of Ottawa Journal of MedicineSame topicBRCA gene mutations in cancerFrench-language works237,207