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Record W2995918088 · doi:10.1186/s12859-019-3158-x

Benchmarking machine learning models for late-onset alzheimer’s disease prediction from genomic data

2019· article· en· W2995918088 on OpenAlexfundno aff
Javier de Velasco Oriol, Edgar E. Vallejo, Karol Estrada, José G. Tamez‐Peña, The Alzheimer’s Disease Neuroimaging Initiative

Bibliographic record

VenueBMC Bioinformatics · 2019
Typearticle
Languageen
FieldMedicine
TopicDementia and Cognitive Impairment Research
Canadian institutionsnot available
FundersNational Institute on AgingNational Institute of Biomedical Imaging and BioengineeringCanadian Institutes of Health ResearchNational Institutes of HealthIXICOCentre hospitalier régional universitaire de LilleH. Lundbeck A/SDevelopment of Innovative Strategies for a Transdisciplinary approach to ALZheimer's diseaseEisaiGenentechErasmus Medisch CentrumServierInstitut National de la Santé et de la Recherche MédicaleBundesministerium für Bildung und ForschungHjartaverndNorthern California Institute for Research and EducationPfizerBiogenBioClinicaF. Hoffmann-La RocheConsejo Nacional de Ciencia y TecnologíaWellcome TrustUniversity of Southern CaliforniaUniversité de LilleEli Lilly and CompanyU.S. Department of DefenseMedical Research CouncilMeso Scale DiagnosticsAlzheimer's Disease Neuroimaging InitiativeNational Heart, Lung, and Blood InstituteNovartis Pharmaceuticals CorporationBristol-Myers SquibbAlzheimer's AssociationFoundation for the National Institutes of Health
KeywordsMachine learningComputer scienceArtificial intelligenceDiseaseBenchmarkingNeuroimagingDementiaSelection (genetic algorithm)MedicineBioinformaticsBiologyPathologyPsychiatry

Abstract

fetched live from OpenAlex

BACKGROUND: Late-Onset Alzheimer's Disease (LOAD) is a leading form of dementia. There is no effective cure for LOAD, leaving the treatment efforts to depend on preventive cognitive therapies, which stand to benefit from the timely estimation of the risk of developing the disease. Fortunately, a growing number of Machine Learning methods that are well positioned to address this challenge are becoming available. RESULTS: We conducted systematic comparisons of representative Machine Learning models for predicting LOAD from genetic variation data provided by the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. Our experimental results demonstrate that the classification performance of the best models tested yielded ∼72% of area under the ROC curve. CONCLUSIONS: Machine learning models are promising alternatives for estimating the genetic risk of LOAD. Systematic machine learning model selection also provides the opportunity to identify new genetic markers potentially associated with the disease.

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)0.024
metaresearch head score (Gemma)0.053
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: Simulation or modeling
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.024
Threshold uncertainty score0.129

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0240.053
Meta-epidemiology (narrow)0.0020.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0030.002
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0020.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0010.001

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 head0.086
GPT teacher head0.313
Teacher spread0.227 · 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
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

Citations72
Published2019
Admission routes1
Has abstractyes

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