A Bayesian approach to model uncertainty in single-cell genomic data

Fuente: arXiv
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Autori principali: Ren, Shanshan, Bartlett, Thomas E., Gerontogianni, Lina, Chandna, Swati
Natura: Preprint
Pubblicazione: 2025
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author Ren, Shanshan
Bartlett, Thomas E.
Gerontogianni, Lina
Chandna, Swati
author_facet Ren, Shanshan
Bartlett, Thomas E.
Gerontogianni, Lina
Chandna, Swati
contents Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised learning with genomic data remains insufficiently explored. Conventional clustering methods assign a singular identity to each cell, potentially obscuring transitional states during differentiation or mutation. This study introduces a variational Bayesian framework for clustering and analysing single-cell genomic data, employing a Bayesian Gaussian mixture model to estimate the probabilistic association of cells with distinct clusters. This approach captures cellular transitions, yielding biologically coherent insights into neurogenesis and breast cancer progression. The inferred clustering probabilities enable further analyses, including Differential Expression Analysis and pseudotime analysis. Furthermore, we propose utilising the misclustering rate and Area Under the Curve in clustering scRNA-seq data as an innovative metric to quantitatively evaluate overall clustering performance. This methodological advancement enhances the resolution of single-cell data analysis, enabling a more nuanced characterisation of dynamic cellular identities in development and disease.
format Preprint
id arxiv_https___arxiv_org_abs_2508_02061
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle A Bayesian approach to model uncertainty in single-cell genomic data
Ren, Shanshan
Bartlett, Thomas E.
Gerontogianni, Lina
Chandna, Swati
Genomics
Quantitative Methods
Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised learning with genomic data remains insufficiently explored. Conventional clustering methods assign a singular identity to each cell, potentially obscuring transitional states during differentiation or mutation. This study introduces a variational Bayesian framework for clustering and analysing single-cell genomic data, employing a Bayesian Gaussian mixture model to estimate the probabilistic association of cells with distinct clusters. This approach captures cellular transitions, yielding biologically coherent insights into neurogenesis and breast cancer progression. The inferred clustering probabilities enable further analyses, including Differential Expression Analysis and pseudotime analysis. Furthermore, we propose utilising the misclustering rate and Area Under the Curve in clustering scRNA-seq data as an innovative metric to quantitatively evaluate overall clustering performance. This methodological advancement enhances the resolution of single-cell data analysis, enabling a more nuanced characterisation of dynamic cellular identities in development and disease.
title A Bayesian approach to model uncertainty in single-cell genomic data
topic Genomics
Quantitative Methods
url https://arxiv.org/abs/2508.02061