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Record W2885408725 · doi:10.5430/jst.v8n2p25

An algorithm to evaluate the efficacy of detecting somatic mutations

2018· article· en· W2885408725 on OpenAlexvenueno aff
Thurai Moorthy

Bibliographic record

VenueJournal of Solid Tumors · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsnot available
Fundersnot available
KeywordsSomatic cellAlleleGermline mutationLiquid biopsyPopulationMutantMutationGeneticsComputational biologyBiologyCancerMedicineGene

Abstract

fetched live from OpenAlex

Detection of somatic mutations from late stage solid tumors is a critical part of cancer treatment. Although tumor content is used as a convenient parameter to measure efficacy of detection, it fails to include two basic factors: the lower limit of detection (LLOD), and the ratio of the mutant and wild type allele frequencies. Recently, the detection of somatic mutations has expanded to liquid biopsy, early stages of cancer and population screening, which all generally carry lower copy numbers of somatic mutations compared to late stage tumors. With the growing importance of these mutations for targeted chemotherapy and other clinical applications, there is a need re-evaluate the efficacy of detection of somatic mutations. Hence, a new algorithm, Detection Index (DI), is proposed to standardize the efficacy of all molecular methods and is applicable to all types of clinical samples. Detection Index (DI) is based on two basic determinants: lower limit of detection of the mutant allele, and the ratio of the copies of the mutant allele to that of the wild-type. The benefits of DI include (a) standardization of methods detecting somatic mutations so that laboratory reports will have a uniform interpretation related to clinical picture, and (b) the flexibility to use appropriate amounts of DNA and assay conditions to achieve desired DI.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.046
Threshold uncertainty score0.195

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 head0.013
GPT teacher head0.313
Teacher spread0.300 · 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 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

Citations2
Published2018
Admission routes1
Has abstractyes

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