Abstract
Differential gene expression in bulk transcriptomics data can reflect change of transcript abundance within a cell type and/or change in the proportions of cell types. Expression deconvolution methods can help differentiate these scenarios. BEDwARS is a Bayesian deconvolution method designed to address differences between reference signatures of cell types and corresponding true signatures underlying bulk transcriptomic profiles. BEDwARS is more robust to noisy reference signatures and outperforms leading in-class methods for estimating cell type proportions and signatures. Application of BEDwARS to dihydropyridine dehydrogenase deficiency identified the possible involvement of ciliopathy and impaired translational control in the etiology of the disorder.
Original language | English (US) |
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Article number | 178 |
Journal | Genome biology |
Volume | 24 |
Issue number | 1 |
DOIs | |
State | Published - Dec 2023 |
Externally published | Yes |
Keywords
- Bayesian inference
- Bulk gene expression deconvolution
- Dihydropyridine dehydrogenase deficiency
- Single cell RNA-seq
ASJC Scopus subject areas
- Genetics
- Ecology, Evolution, Behavior and Systematics
- Cell Biology