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Record W7134995974

Foundation Models for Analyzing Single-Cell RNA Sequence data

2025· other· en· W7134995974 on OpenAlexfundno aff
Amirreza Naziri

Bibliographic record

VenueYorkSpace (York University) · 2025
Typeother
Languageen
Field
Topic
Canadian institutionsnot available
FundersNatural Sciences and Engineering Research Council of CanadaCanada First Research Excellence FundYork University
KeywordsMasking (illustration)Foundation (evidence)BenchmarkingStrengths and weaknessesReliability (semiconductor)Sequence (biology)
DOInot available

Abstract

fetched live from OpenAlex

Single-cell RNA sequencing (scRNA-seq) measures gene expression in individual cells, offering deep insight into cellular heterogeneity, development, and disease. Transformer-based foundation models have become central to single-cell RNA-sequencing analysis, yet most rely on uniform random masking during pretraining, a strategy misaligned with the sparsity, heterogeneity, and zero inflation characteristic of scRNA-seq data. To assess how these models behave under realistic biological variation, we first perform a comprehensive evaluation of four widely used single-cell foundation models (Geneformer, scBERT, scFoundation, and scGPT) across three diverse datasets. This benchmarking reveals substantial variability in model performance, including systematic weaknesses on rare cell populations and degraded accuracy in clinically challenging conditions. Motivated by the broader limitations of random masking in Foundation models, we introduce Multinomial Attention Masking (MAM), a biologically informed masking strategy that leverages trainable latent representations and cross-attention to identify informative gene positions during pretraining. Across all datasets, models pretrained with MAM consistently achieve higher downstream cell-type classification accuracy than those trained with uniform masking and, in several cases, outperform the original pretrained backbones. Biological validation further demonstrates that MAM preferentially selects highly expressed and functionally meaningful genes, indicating that its improvements stem from capturing biologically relevant structure rather than from increased algorithmic complexity. This work improves the reliability and utility of single-cell foundation models for researchers and clinicians alike.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: Other
Teacher disagreement score0.237
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0030.003
Science and technology studies0.0000.000
Scholarly communication0.0000.001
Open science0.0030.001
Research integrity0.0010.000
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 head0.100
GPT teacher head0.265
Teacher spread0.165 · 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.

Study designNot applicable
Domainnot available
GenreOther

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 routes1
Has abstractyes

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