Functional annotation of HOT regions in the human genome: implications for human disease and cancer.

ABSTRACT: Advances in genome-wide association studies (GWAS) and large-scale sequencing studies have resulted in an impressive and growing list of disease- and trait-associated genetic variants. Most studies have emphasised the discovery of genetic variation in coding sequences, however, the noncoding regulatory effects responsible for human disease and cancer biology have been substantially understudied. To better characterise the cis-regulatory effects of noncoding variation, we performed a comprehensive analysis of the genetic variants in HOT (high-occupancy target) regions, which are considered to be one of the most intriguing findings of recent large-scale sequencing studies. We observed that GWAS variants that map to HOT regions undergo a substantial net decrease and illustrate development-spe

SUBMITTER: Li H 

PROVIDER: S-EPMC4481521 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature