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Record W4309218260 · doi:10.1101/2022.11.16.516806

Multi-‘Omic Integration via Similarity Network Fusion to Detect Molecular Subtypes of Aging

2022· preprint· en· W4309218260 on OpenAlexafffund
Mu Yang, Stuart Matan-Lithwick, Yanling Wang, Philip L. De Jager, David A. Bennett, Daniel Felsky

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2022
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsPublic Health OntarioUniversity of TorontoCentre for Addiction and Mental Health
FundersNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health ResearchMinisterio de Economía y CompetitividadNational Institutes of HealthKrembil FoundationSimons Foundation
KeywordsSubtypingComputational biologyDNA methylationModalitiesBiologyHistoneBioinformaticsGeneticsGeneComputer scienceGene expression

Abstract

fetched live from OpenAlex

Abstract Background Molecular subtyping of brain tissue provides insights into the heterogeneity of common neurodegenerative conditions, such as Alzheimer’s disease (AD). However, existing subtyping studies have mostly focused on single data modalities and only those individuals with severe cognitive impairment. To address these gaps, we applied Similarity Network Fusion (SNF), a method capable of integrating multiple high-dimensional multi-’omic data modalities simultaneously, to an elderly sample spanning the full spectrum of cognitive aging trajectories. Methods We analyzed human frontal cortex brain samples characterized by five ‘omic modalities: bulk RNA sequencing (18,629 genes), DNA methylation (53,932 cpg sites), histone H3K9 acetylation (26,384 peaks), proteomics (7,737 proteins), and metabolomics (654 metabolites). SNF followed by spectral clustering was used for subtype detection, and subtype numbers were determined by eigen-gap and rotation cost statistics. Normalized Mutual Information (NMI) determined the relative contribution of each modality to the fused network. Subtypes were characterized by associations with 13 age-related neuropathologies and cognitive decline. Results Fusion of all five data modalities (n=111) yielded two subtypes (n S1 =53, n S2 =58) which were nominally associated with diffuse amyloid plaques; however, this effect was not significant after correction for multiple testing. Histone acetylation (NMI=0.38), DNA methylation (NMI=0.18) and RNA abundance (NMI=0.15) contributed most strongly to this network. Secondary analysis integrating only these three modalities in a larger subsample (n=513) indicated support for both 3- and 5-subtype solutions, which had significant overlap, but showed varying degrees of internal stability and external validity. One subtype showed marked cognitive decline, which remained significant even after correcting for tests across both 3- and 5-subtype solutions ( p Bonf =5.9×10 −3 ). Comparison to single-modality subtypes demonstrated that the three-modal subtypes were able to uniquely capture cognitive variability. Comprehensive sensitivity analyses explored influences of sample size and cluster number parameters. Conclusion We identified highly integrative molecular subtypes of aging derived from multiple high dimensional, multi-’omic data modalities simultaneously. Fusing RNA abundance, DNA methylation, and H3K9 acetylation measures generated subtypes that were associated with cognitive decline. This work highlights the potential value and challenges of multi-’omic integration in unsupervised subtyping of postmortem brain.

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)0.002
metaresearch head score (Gemma)0.004
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0060.003
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0010.002
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.009
GPT teacher head0.220
Teacher spread0.211 · 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".

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Citations1
Published2022
Admission routes2
Has abstractyes

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