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Record W3045868447 · doi:10.1002/widm.1383

Predicting disease‐associated genes: Computational methods, databases, and evaluations

2020· article· en· W3045868447 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueWiley Interdisciplinary Reviews Data Mining and Knowledge Discovery · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsUniversity of SaskatchewanPrincess Margaret Cancer CentreUniversity Health Network
FundersNatural Sciences and Engineering Research Council of CanadaChina Scholarship Council
KeywordsIdentification (biology)Computer scienceComputational modelFocus (optics)Machine learningData scienceSet (abstract data type)Point (geometry)Biological dataModelling biological systemsArtificial intelligenceBioinformaticsSystems biologyBiology

Abstract

fetched live from OpenAlex

Abstract Complex diseases are associated with a set of genes (called disease genes), the identification of which can help scientists uncover the mechanisms of diseases and develop new drugs and treatment strategies. Due to the huge cost and time of experimental identification techniques, many computational algorithms have been proposed to predict disease genes. Although several review publications in recent years have discussed many computational methods, some of them focus on cancer driver genes while others focus on biomolecular networks, which only cover a specific aspect of existing methods. In this review, we summarize existing methods and classify them into three categories based on their rationales. Then, the algorithms, biological data, and evaluation methods used in the computational prediction are discussed. Finally, we highlight the limitations of existing methods and point out some future directions for improving these algorithms. This review could help investigators understand the principles of existing methods, and thus develop new methods to advance the computational prediction of disease genes. This article is categorized under: Technologies > Machine Learning Technologies > Prediction Algorithmic Development > Biological Data Mining

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.

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)0.001
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: Other design · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.804
Threshold uncertainty score0.793

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
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 science0.0000.003
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 head0.098
GPT teacher head0.401
Teacher spread0.303 · 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