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Record W4407602955 · doi:10.1101/2025.02.11.637700

Deconvolution of Sample Identity in Single-Cell RNA Sequencing <i>via</i> Genome Imputation

2025· preprint· en· W4407602955 on OpenAlexaff
Rupert Hugh-White, Farshad Nassiri, Gelareh Zadeh, Paul C. Boutros

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicSingle-cell and spatial transcriptomics
Canadian institutionsUniversity Health NetworkPrincess Margaret Cancer CentreUniversity of Toronto
Fundersnot available
KeywordsDeconvolutionImputation (statistics)Computational biologySample (material)GenomeComputer scienceBiologyGeneticsAlgorithmGeneChromatographyMissing dataMachine learningChemistry

Abstract

fetched live from OpenAlex

Abstract Background Droplet based single-cell RNA sequencing (scRNA-seq) is a powerful tool for measuring RNA abundance profiles at cell-specific resolution. Droplet-based barcoding technology allows sample multiplexing, thereby facilitating high-scale of single cell sequencing. The resulting processing complexity, sample contamination and the underlying chemistries can all contribute to cell mis-labelling and consequent spurious cell-to-sample assignment. Approaches for barcode-free de-multiplexing which leverage natural genetic variation have been developed, but generally require an external source of genotype information. Results We propose a novel method to exploit genome imputation and clustering to assign cells to inferred donor groups in the absence of a priori genetic information. Using tumor-derived single-cell RNA-sequencing (scRNA-seq) data, our workflow successfully assigned individual cells to donor-of-origin with high concordance. Conclusions This imputation-clustering approach represents a quality-assessment and quality-control strategy for barcode-free single cell donor-origin deconvolution with the capacity to resolve cases of sample cross-contamination.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.075
Threshold uncertainty score1.000

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 integrity0.0010.000
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 head0.015
GPT teacher head0.223
Teacher spread0.208 · 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 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

Citations0
Published2025
Admission routes1
Has abstractyes

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