Epigenetic patient stratification via contrastive machine learning refines hallmark biomarkers in minoritized children with asthma

E Rahmani, A Gorla, E Burchard, J Witonsky, N Zaitlen… - 2024 - researchsquare.com
Identifying and refining clinically significant patient stratification is a critical step toward
realizing the promise of precision medicine in asthma. Several peripheral blood hallmarks …

Leveraging epigenetic signatures to determine the cell-type of origin from long read sequencing data

E Hannon, J Mill - bioRxiv, 2024 - biorxiv.org
DNA methylation differs across tissue-and cell-types with important implications for the
analysis of disease-associated differences in tissues such as blood. To uncover the …

Identifying systematic variation at the single-cell level by leveraging low-resolution population-level data

E Rahmani, MI Jordan, N Yosef - BioRxiv, 2022 - biorxiv.org
A major limitation in single-cell genomics is a lack of ability to conduct cost-effective
population-level studies. As a result, much of the current research in single-cell genomics …

A unified model for cell-type resolution genomics from heterogeneous omics data

ZJ Chen, E Rahmani, E Halperin - bioRxiv, 2024 - biorxiv.org
The vast majority of population-scale genomic datasets collected to date consist of “bulk”
samples obtained from heterogeneous tissues, reflecting mixtures of different cell types. In …

Nonlinear ridge regression improves cell-type-specific differential expression analysis

F Takeuchi, N Kato - BMC bioinformatics, 2021 - Springer
Background Epigenome-wide association studies (EWAS) and differential gene expression
analyses are generally performed on tissue samples, which consist of multiple cell types …

A hierarchical Bayesian interaction model to estimate cell-type-specific methylation quantitative trait loci incorporating priors from cell-sorted bisulfite sequencing data

Y Cheng, B Cai, H Li, X Zhang, G D'Souza, S Shrestha… - bioRxiv, 2024 - biorxiv.org
Background: Methylation Quantitative Trait Loci (meQTLs) are chromosomal regions that
harbor genetic variants affecting DNA methylation levels. The identification of meQTLs can …

Cell-Type Heterogeneity in DNA Methylation Studies: Statistical Methods and Guidelines

AE Teschendorff - Epigenetic Epidemiology, 2022 - Springer
Studies in epigenetic epidemiology have reported increasing numbers of epigenetic
biomarkers associated with a wide range of exposures and outcomes. Due to cost and …

The Effect of Model Directionality on Cell-Type-Specific Differential DNA Methylation Analysis

E Rahmani, B Jew, E Halperin - Frontiers in Bioinformatics, 2022 - frontiersin.org
Calling differential methylation at a cell-type level from tissue-level bulk data is a
fundamental challenge in genomics that has recently received more attention. These studies …

Low variability in the underlying cellular landscape adversely affects the performance of interaction-based approaches for conducting cell-specific analyses of DNA …

R Meier, E Nissen, DC Koestler - Statistical applications in genetics …, 2021 - degruyter.com
Statistical methods that allow for cell type specific DNA methylation (DNAm) analyses based
on bulk-tissue methylation data have great potential to improve our understanding of human …

Modeling population size independent tissue epigenomes by ChIL‐seq with single thin sections

K Maehara, K Tomimatsu, A Harada… - Molecular Systems …, 2021 - embopress.org
Recent advances in genome‐wide technologies have enabled analyses using small cell
numbers of even single cells. However, obtaining tissue epigenomes with cell‐type …