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Record W1825240869 · doi:10.18192/uojm.v4i2.1075

Is Next-Generation Sequencing Appropriate for the Clinic?

2014· article· en· W1825240869 on OpenAlexaffvenue
Ramzi Hassouneh

Bibliographic record

VenueUniversity of Ottawa Journal of Medicine · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsUniversity of Ottawa
Fundersnot available
KeywordsDNA sequencingMedical diagnosisMedicineComputational biologyComputer scienceData scienceBiologyGeneticsGenePathology

Abstract

fetched live from OpenAlex

Next-generation sequencing (NGS) has ignited a revolution in genomic medicine by eliminating the inherent limitations of conventional sequencing methods. Due to its high throughput and low-cost, clinics can use NGS to perform targeted and genome sequencing to make diagnoses or pre-screen for risk to future disease. Despite its clinical uses, many challenges exist before NGS becomes a mainstay in the clinic. There is a lack of understanding of the impact of genetic variants on health and disease and how to best apply genetic information to patient care. Nevertheless, the translation of base pair reads to clinical applications has truly begun.

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)0.028
metaresearch head score (Gemma)0.073
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Commentary · Consensus signal: Commentary
Teacher disagreement score0.028
Threshold uncertainty score0.149

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0280.073
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0010.001
Science and technology studies0.0010.007
Scholarly communication0.0050.010
Open science0.0020.002
Research integrity0.0100.014
Insufficient payload (model declined to judge)0.0070.005

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 head0.044
GPT teacher head0.257
Teacher spread0.213 · 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 designNot applicable
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

Citations0
Published2014
Admission routes2
Has abstractyes

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