bioRxiv Science⌕ Search

bioRxiv · 10.1101/2024.04.15.589472

Nicheformer: a foundation model for single-cell and spatial omics

Abstract

Tissue makeup relies fundamentally on the cellular microenvironment. Spatial single-cell genomics allows probing the underlying cellular interactions in an unbiased, scalable fashion. To learn a unified cell representation that accounts for local dependencies in the cellular microenvironment, we propose Nicheformer, a transformer-based foundation model that combines human and mouse dissociated single-cell and targeted spatial transcriptomics data. Pretrained on over 57 million dissociated and 53 million spatially resolved cells across 73 tissues on cellular reconstruction, the model is fine-tuned on spatial tasks for spatial omics data to decode spatially resolved cellular information. Nicheformer excels in linear-probing and fine-tuning scenarios for a novel set of downstream tasks, in particular spatial composition prediction and spatial label prediction. We further show that existing foundation models trained on dissociated single-cell data alone are not capable of recapitulating the spatial complexity of cells in their microenvironments, indicating that multiscale models are required to understand complex local dependencies at scale. Nicheformer enables the prediction of the spatial context of dissociated cells, allowing the transfer of rich spatial information to scRNA-seq datasets. Overall, Nicheformer sets the stage for the next generation of machine-learning models in spatial single-cell analysis. Extended AbstractTissue makeup and the corresponding orchestration of vital biological activities, ranging from development and differentiation to immune response and regeneration, rely fundamentally on the cellular microenvironment and the interactions between cells. Spatial single-cell genomics allows probing such interactions in an unbiased and, increasingly, scalable fashion. To learn a unified cell representation that accounts for local dependencies in the cellular microenvironment and the underlying cell interactions, we propose to generalize recent foundation modeling approaches for disassociated single-cell transcriptomics to the spatial omics setting. Our model, Nicheformer, is a transformer-based foundation model that combines human and mouse dissociated single-cell and targeted spatial transcriptomics data to learn a cellular representation useful for a large variety of downstream tasks. Nicheformer is pretrained on over 57 million dissociated and 53 million spatially resolved cells across 73 tissues from both human and mouse. Subsequently, the model is fine-tuned on spatial tasks for spatial omics data to decode spatially resolved cellular information. We demonstrate the usefulness of Nicheformer in both linear-probing as well as fine-tuning scenarios on a novel set of spatially-relevant downstream tasks such as spatial density prediction or niche and region label prediction. In particular, we show that Nicheformer enables the prediction of the spatial context of dissociated cells, allowing the transfer of rich spatial information to scRNA-seq datasets. We define a series of novel spatial prediction problems and observe consistent top performance of Nicheformer, demonstrating the advantage of the improved model capacity of the underlying transformer. Additionally, we benchmarked Nicheformer in these tasks against scGPT1, Geneformer2, scVI3 and PCA and show that the Nicheformer architecture excels in these tasks. Altogether, our large-scale resource of more than 110 million cells in a partial spatial context, together with the set of novel spatial learning tasks and the Nicheformer model itself, will pave the way for the next generation of machine-learning models for spatial single-cell analysis.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Schaar, A. C., Tejada-Lapuerta, A., Palla, G., Gutgesell, R., Halle, L., Minaeva, M., Vornholz, L., Dony, L., Drummer, F., Bahrami, M., Theis, F. J.. 2024-04-17. Nicheformer: a foundation model for single-cell and spatial omics. https://doi.org/10.1101/2024.04.15.589472

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Uncovering Viral Signals Across Cell Populations in Colorectal Cancer

Viral sequences have been detected in colorectal cancer, but their cellular and anatomical distribution remains poorly resolved. We aimed to establish a cell-type-resolved map of viral reference-associated RNA signals across colorectal cancer, tumour-adjacent normal tissue, and healthy colon. We repurposed human-unmapped reads from single-cell RNA sequencing libraries generated in ten publicly available studies. We retained cell-barcode and unique molecular identifier information, removed duplicate molecules, and aligned reads to a curated human-associated viral reference using three aligners. Viral signals were analysed across cell types, tissue conditions, and colorectal segments. We used participant-grouped repeated cross-validation to evaluate tissue-condition classification and screened an independent paired colorectal cancer proteomics cohort for compatible peptide matches. The study included 547 libraries from 112 participants, including 49 with matched colorectal cancer and tumour-adjacent normal samples, and approximately 415,000 cells spanning ten major cell populations. Viral reference-associated RNA signals differed across epithelial, immune, stromal, and vascular compartments, tissue conditions, and anatomical regions of the colon. Of 318 independent healthy-reference viral-load comparisons, seven involving six virus-cell-type groups remained significant after Benjamini-Hochberg correction, including plasma-cell HHV-7 and HHV-6B and mast-cell HCV-2. Cell-type-resolved viral features distinguished colorectal cancer, tumour-adjacent normal tissue, and healthy colon in participant-grouped validation; random forest achieved a macro-AUC of 0.957 (SD 0.028), with HERV-K113 as the leading quantitative feature. An independent proteomic screen identified peptide matches compatible with 20 candidate viral groups. We established a cell-type-resolved map of viral reference-associated RNA signals across colorectal tissue conditions and anatomical regions. By identifying candidate viral signals in epithelial and immune compartments, this map provides a basis for investigating virus-host pathways involved in tumour biology, immune regulation, and antigen-presentation states, and could help prioritise future combination strategies pairing virus-directed or virus-mimetic approaches with standard treatment or immune checkpoint blockade.

bioinformatics↗

Statistical significance testing for spatial domain detection in spatial transcriptomics

In spatial transcriptomics, domain-detection methods group platform-specific spatial measurement units--cells, bins or multicellular spots--into spatial domains for comparing molecular programs, cellular composition and interactions among tissue regions. However, the number of candidate domains detected in the same tissue can vary with user-specified parameters or model-selection criteria. Whether candidate domains should be merged can be framed as a test of a single-domain null hypothesis, under which each gene has constant mean expression across all spatial units in the combined region. However, testing candidate domains on the same gene-expression data used to detect them may induce post-selection bias and yield anti-conservative p-values, increasing the risk of oversegmentation. To address these challenges, we introduce SigDoTS (statistical Significance testing for Domain deTection in Spatial transcriptomics), a hypothesis-testing framework for spatial domain detection. SigDoTS uses hierarchical testing to determine which candidate domains to retain or merge, with adjustment for family-wise error control. It accounts for gene-gene covariance and spatial dependence and computes p-values by rerunning the upstream domain-detection pipeline on datasets simulated under the fitted single-domain null. In simulations, SigDoTS controlled the type I error rate at the root node under the single-domain null and improved recovery of the true spatial domains when multiple domains were present. In human dorsolateral prefrontal cortex, SigDoTS retained superficial and deep Layer 6 domains but merged Layer 3 candidate domains across different initial numbers of candidate domains. In ovarian and colorectal cancers, SigDoTS retained epithelial domains with different gene-expression programs and local immune environments, together with immune, stromal and vascular domains.

bioinformatics↗

ASD Neuro Agentic (ANA): An Agentic Framework for Feature Discovery and Cross Site Generalization in Autism fMRI Classification

Classifiers of autism spectrum disorder (ASD) from resting state functional MRI rarely generalize across sites, and many reported accuracies are inflated by data leakage.We show that an agentic artificial intelligence framework, ASD Neuro Agentic (ANA), whose language model agents propose features from the literature and researcher input while fixed tools perform every calculation, can search auditably for site independent classifiers while controlling the leakage. In 1,028 participants from 17 ABIDE I centers, ANA tested 71 pipelines and selected a ComBat harmonized ensemble of tangent space connectivity models from six parcellations and 98 public connectivity derivatives. In leave one center out testing, the ensemble reached an area under the curve of 0.814 (95% CI, 0.773 to 0.841), outperforming ASD DiagNet and ASD SAENet. Predictive connectivity was mainly reduced in ASD. Agentic AI offers a systematic and efficient approach to exploring, evaluating, and identifying pipelines as model selection grows complex.

bioinformatics↗