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Record W4413495491 · doi:10.1038/s41587-025-02777-8

Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation

2025· article· en· W4413495491 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNature Biotechnology · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicSingle-cell and spatial transcriptomics
Canadian institutionsCanadian Institute for Advanced Research
FundersPeter und Traudl Engelhorn StiftungEuropean CommissionSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Science Foundation
KeywordsPredictive powerPerturbation (astronomy)ConfoundingVariation (astronomy)Computer scienceGenomicsMachine learningBiologyMathematicsGeneGenomeGeneticsStatisticsPhysics

Abstract

fetched live from OpenAlex

Predicting transcriptional responses to genetic perturbations is challenging in functional genomics. While recent methods aim to infer effects of untested perturbations, their true predictive power remains unclear. Here, we show that current methods struggle to generalize beyond systematic variation, the consistent transcriptional differences between perturbed and control cells arising from selection biases or confounders. We quantify this variation in ten datasets, spanning three technologies and five cell lines, and show that common metrics are susceptible to these biases, leading to overestimated performance. To address this, we introduce Systema, an evaluation framework that emphasizes perturbation-specific effects and identifies predictions that correctly reconstruct the perturbation landscape. Using this framework, we uncover insights into the predictive capabilities of existing methods and show that predicting responses to unseen perturbations is substantially harder than standard metrics suggest. Our work highlights the importance of heterogeneous gene panels and disentangles predictive performance from systematic effects, enabling biologically meaningful developments in perturbation response modeling.

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.

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)0.001
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.527
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.003
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 integrity0.0020.000
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 head0.008
GPT teacher head0.282
Teacher spread0.274 · 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