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Record W4324116982 · doi:10.1016/j.gimo.2023.100590

P543: Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population

2023· article· en· W4324116982 on OpenAlexaff
Emma Reble, Jordan Sam, Rita Kodida, Marc Clausen, Salma Shickh, Chloe Mighton, José‐Mario Capo‐Chichi, Elena Greenfeld, Abdul Noor, Raymond H. Kim, Jordan Lerner‐Ellis, Yvonne Bombard

Bibliographic record

VenueGenetics in Medicine Open · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsUniversity Health Network
Fundersnot available
KeywordsExome sequencingComputational biologyExomeCancerBiologyComputer scienceMedicineGeneticsMutationGene

Abstract

fetched live from OpenAlex

Genomic sequencing (GS), including exome and genome sequencing, is increasingly being used as a diagnostic tool over traditional panel testing. With the ability to assess many more genes than traditional panel testing, GS can test for the same well-known genes on a variety of different panels while also testing for more preliminary evidence genes. The use of GS may also evolve to act as an important health tool that can be reanalyzed as new genes and evidence comes to light. However, little is known as to whether GS is a valid and useful diagnostic tool over traditional panel testing.

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 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 categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.070
Threshold uncertainty score0.240

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 science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.229
GPT teacher head0.358
Teacher spread0.130 · 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 teacher head, 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

Citations1
Published2023
Admission routes1
Has abstractyes

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