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DiSTect: a Bayesian model for disease-associated gene discovery and prediction in spatial transcriptomics

2025· article· en· W4414422676 on OpenAlexafffund
Qihuang Zhang

Bibliographic record

VenueBioinformatics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicSingle-cell and spatial transcriptomics
Canadian institutionsMcGill UniversityMcGill University Health Centre
FundersNatural Sciences and Engineering Research Council of Canada
KeywordsSource codeBayesian probabilityCode (set theory)SoftwareBayesian networkTranscriptome

Abstract

fetched live from OpenAlex

MOTIVATION: Identifying disease-indicative genes is critical for deciphering disease mechanisms and has attracted significant interest in biomedical research. Spatial transcriptomics offers unprecedented insights for the detection of disease-associated genes by enabling within-tissue contrasts. However, this new technology poses challenges for conventional statistical models developed for RNA-sequencing, as these models often neglect the spatial corrleation of the disease status among tissue spots. RESULTS: In this article, we propose DiSTect, a Bayesian shrinkage model to characterize the relationship between high-dimensional gene expressions and the disease status of each tissue spot, incorporating spatial correlation among these spots through autoregressive terms. Our model adopts a hierarchical structure to facilitate the analysis of multiple correlated samples and is further extended to accommodate the missing data within tissues. To ensure the model's applicability to datasets of varying sizes, we carry out two computational frameworks for Bayesian parameter estimation, tailored to both small and large sample scenarios. Simulation studies are conducted to evaluate the performance of the proposed model. The proposed model is applied to analyze the data arising from studies of HER2+ breast cancer and Alzheimer's disease. AVAILABILITY AND IMPLEMENTATION: The dataset and source code are available on GitHub (https://github.com/StaGill/DiSTect) and Zenodo (https://zenodo.org/records/17127211).

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)0.008
metaresearch head score (Gemma)0.018
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: Methods · Consensus signal: Methods
Teacher disagreement score0.013
Threshold uncertainty score0.044

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0080.018
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0010.002
Science and technology studies0.0010.002
Scholarly communication0.0020.002
Open science0.0040.002
Research integrity0.0020.003
Insufficient payload (model declined to judge)0.0040.001

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 head0.010
GPT teacher head0.219
Teacher spread0.210 · 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

Citations0
Published2025
Admission routes2
Has abstractyes

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