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Record W4200283230 · doi:10.3390/diagnostics11122303

Integrated Genomic, Transcriptomic and Proteomic Analysis for Identifying Markers of Alzheimer’s Disease

2021· article· en· W4200283230 on OpenAlexfundno aff
Laura Madrid, Sandra C. Labrador, Antonio González‐Pérez, María Eugenia Sáez

Bibliographic record

VenueDiagnostics · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsnot available
FundersNational Institute on AgingNational Institute of Biomedical Imaging and BioengineeringCanadian Institutes of Health ResearchGenentechNational Institutes of HealthNational Institute of Neurological Disorders and StrokeIXICOH. Lundbeck A/SInnovative Medicines InitiativeEisaiNorthern California Institute for Research and EducationIllinois Department of Public HealthRush UniversityServierCurePSPPfizerBiogenBioClinicaMeso Scale DiagnosticsMayo Foundation for Medical Education and ResearchF. Hoffmann-La RocheMayo ClinicUniversity of Southern CaliforniaMichael J. Fox Foundation for Parkinson's ResearchEmory UniversityEli Lilly and CompanyBristol-Myers SquibbAlzheimer's AssociationTranslational Genomics Research InstituteNovartis Pharmaceuticals CorporationArizona Department of Health ServicesArizona Biomedical Research CommissionFoundation for the National Institutes of Health
KeywordsExpression quantitative trait lociSingle-nucleotide polymorphismGenome-wide association studyCandidate geneQuantitative trait locusBiologyComputational biologyGenetic associationDiseaseTranscriptomeGenotypeGeneticsGeneBioinformaticsGene expressionMedicinePathology

Abstract

fetched live from OpenAlex

There is an urgent need to identify biomarkers for Alzheimer's disease (AD), but the identification of reliable blood-based biomarkers has proven to be much more difficult than initially expected. The current availability of high-throughput multi-omics data opens new possibilities in this titanic task. Candidate Single Nucleotide Polymorphisms (SNPs) from large, genome-wide association studies (GWAS), meta-analyses exploring AD (case-control design), and quantitative measures for cortical structure and general cognitive performance were selected. The Genotype-Tissue Expression (GTEx) database was used for identifying expression quantitative trait loci (eQTls) among candidate SNPs. Genes significantly regulated by candidate SNPs were investigated for differential expression in AD cases versus controls in the brain and plasma, both at the mRNA and protein level. This approach allowed us to identify candidate susceptibility factors and biomarkers of AD, facing experimental validation with more evidence than with genetics alone.

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 score0.390
Threshold uncertainty score0.502

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 head0.019
GPT teacher head0.257
Teacher spread0.237 · 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

Citations16
Published2021
Admission routes1
Has abstractyes

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