Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations.

ABSTRACT:

Background

Genome-wide association study (GWAS) single nucleotide polymorphisms (SNPs) are known to preferentially co-locate to active regulatory elements in tissues and cell types relevant to disease aetiology. Further characterisation of associated cell type-specific regulation can broaden our understanding of how GWAS signals may contribute to disease risk.

Results

To gain insight into potential functional mechanisms underlying GWAS associations, we developed FORGE2 ( https://forge2.altiusinstitute.org/ ), which is an updated version of the FORGE web tool. FORGE2 uses an expanded atlas of cell type-specific regulatory element annotations, including DNase I hotspots, five histone mark categories and 15 hidden Markov model (HMM) chromatin states, to identify tissue- and cel

SUBMITTER: Breeze CE 

PROVIDER: S-EPMC8742386 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature