Genetic effects of sequence-conserved enhancer-like elements on human complex traits.

ABSTRACT:

Background

The vast majority of findings from human genome-wide association studies (GWAS) map to non-coding sequences, complicating their mechanistic interpretations and clinical translations. Non-coding sequences that are evolutionarily conserved and biochemically active could offer clues to the mechanisms underpinning GWAS discoveries. However, genetic effects of such sequences have not been systematically examined across a wide range of human tissues and traits, hampering progress to fully understand regulatory causes of human complex traits.

Results

Here we develop a simple yet effective strategy to identify functional elements exhibiting high levels of human-mouse sequence conservation and enhancer-like biochemical activity, which scales well to 313 epigenomic datasets

SUBMITTER: Zhu X 

PROVIDER: S-EPMC10759394 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature