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Record W2952191365 · doi:10.1093/bioinformatics/btz485

SIGN: similarity identification in gene expression

2019· article· en· W2952191365 on OpenAlexafffund
Seyed Ali Madani Tonekaboni, Venkata Manem, Nehmé El-Hachem, Benjamin Haibe‐Kains

Bibliographic record

VenueBioinformatics · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsVector InstituteMontreal Clinical Research InstituteInstitute of Cancer ResearchOntario Institute for Cancer ResearchInstitut universitaire de cardiologie et de pneumologie de QuébecUniversité de MontréalUniversité LavalPrincess Margaret Cancer CentreUniversity of Toronto
FundersNatural Sciences and Engineering Research Council of CanadaOntario Institute for Cancer ResearchCanadian Institutes of Health ResearchGovernment of OntarioCancer Research Society
KeywordsSimilarity (geometry)Identification (biology)Expression (computer science)Computer scienceComputational biologyBreast cancerSign (mathematics)Artificial intelligenceMachine learningData miningBioinformaticsBiologyCancerGeneticsMathematics

Abstract

fetched live from OpenAlex

MOTIVATION: High-throughput molecular profiles of human cells have been used in predictive computational approaches for stratification of healthy and malignant phenotypes and identification of their biological states. In this regard, pathway activities have been used as biological features in unsupervised and supervised learning schemes. RESULTS: We developed SIGN (Similarity Identification in Gene expressioN), a flexible open-source R package facilitating the use of pathway activities and their expression patterns to identify similarities between biological samples. We defined a new measure, the transcriptional similarity coefficient, which captures similarity of gene expression patterns, instead of quantifying overall activity, in biological pathways between the samples. To demonstrate the utility of SIGN in biomedical research, we establish that SIGN discriminates subtypes of breast tumors and patients with good or poor overall survival. SIGN outperforms the best models in DREAM challenge in predicting survival of breast cancer patients using the data from the Molecular Taxonomy of Breast Cancer International Consortium. In summary, SIGN can be used as a new tool for interrogating pathway activity and gene expression patterns in unsupervised and supervised learning schemes to improve prognostic risk estimation for cancer patients by the biomedical research community. AVAILABILITY AND IMPLEMENTATION: An open-source R package is available (https://cran.r-project.org/web/packages/SIGN/).

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)0.004
metaresearch head score (Gemma)0.021
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.007
Threshold uncertainty score0.024

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.021
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0030.004
Science and technology studies0.0000.001
Scholarly communication0.0020.002
Open science0.0010.002
Research integrity0.0010.002
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 head0.009
GPT teacher head0.230
Teacher spread0.221 · 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 designSimulation or modeling
Domainnot available
GenreMethods

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

Citations4
Published2019
Admission routes2
Has abstractyes

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