Uncertainty quantification of reference-based cellular deconvolution algorithms.

ABSTRACT: The majority of epigenetic epidemiology studies to date have generated genome-wide profiles from bulk tissues (e.g., whole blood) however these are vulnerable to confounding from variation in cellular composition. Proxies for cellular composition can be mathematically derived from the bulk tissue profiles using a deconvolution algorithm; however, there is no method to assess the validity of these estimates for a dataset where the true cellular proportions are unknown. In this study, we describe, validate and characterize a sample level accuracy metric for derived cellular heterogeneity variables. The CETYGO score captures the deviation between a sample's DNA methylation profile and its expected profile given the estimated cellular proportions and cell type reference profiles. We demonstrat

SUBMITTER: Vellame DS 

PROVIDER: S-EPMC9980651 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature