Identifying dysregulated regions in amyotrophic lateral sclerosis through chromatin accessibility outliers.

ABSTRACT: The high heritability of amyotrophic lateral sclerosis (ALS) contrasts with its low molecular diagnosis rate post-genetic testing, pointing to potential undiscovered genetic factors. To aid the exploration of these factors, we introduced EpiOut, an algorithm to identify chromatin accessibility outliers that are regions exhibiting divergent accessibility from the population baseline in a single or few samples. Annotation of accessible regions with histone chromatin immunoprecipitation sequencing and Hi-C indicates that outliers are concentrated in functional loci, especially among promoters interacting with active enhancers. Across different omics levels, outliers are robustly replicated, and chromatin accessibility outliers are reliable predictors of gene expression outliers and aberrant p

SUBMITTER: Celik MH 

PROVIDER: S-EPMC11260578 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature