Ontology-aware DNA methylation classification with a curated atlas of human tissues and cell types
Published in bioRxiv, 2025
We assemble the largest and most diverse atlas of exclusively healthy human tissue and cell samples profiled by 450K arrays, comprising of 16,959 samples across 86 tissues and cell types. Leveraging this resource, we introduce an ontology-aware classification framework that identifies robust CpG features associated with tissue and cell identity while integrating known anatomical and functional relationships.
Recommended citation: Mirae Kim, Ruth Dannenfelser, Yufei Cui, Genevera Allen, Vicky Yao bioRxiv 2025.04.18.649618; doi: https://doi.org/10.1101/2025.04.18.649618 https://doi.org/10.1101/2025.04.18.649618