Most brain disease-associated and eQTL haplotypes are not located within transcription factor DNase-seq footprints in brain.

ABSTRACT: Dense genotyping approaches have revealed much about the genetic architecture both of gene expression and disease susceptibility. However, assigning causality to genetic variants associated with a transcriptomic or phenotypic trait presents a far greater challenge. The development of epigenomic resources by ENCODE, the Epigenomic Roadmap and others has led to strategies that seek to infer the likely functional variants underlying these genome-wide association signals. It is known, for example, that such variants tend to be located within areas of open chromatin, as detected by techniques such as DNase-seq and FAIRE-seq. We aimed to assess what proportion of variants associated with phenotypic or transcriptomic traits in the human brain are located within transcription factor binding sites.

SUBMITTER: Handel AE 

PROVIDER: S-EPMC5351933 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature