title: Identification and function of enhancers in the human genome.
abstract: The study of gene regulation has rapidly advanced by leveraging next-generation sequencing to identify and characterize the cis and trans elements that are critical for defining cell identity. These advances have paralleled a movement towards whole genome sequencing in clinics. These two tracks have increasingly synergized to underscore the importance of cis-regulatory elements in development as well produce countless studies implicating these elements in human disease. Other studies have emphasized the clinical phenotypes associated with variation or mutations in trans factors, including non-coding RNAs and chromatin regulators. These studies highlight the importance of obtaining a comprehensive understanding of mammalian gene regulation for predicting the impact of genetic variation on patient phenotypes. Currently lagging behind the generation of vast datasets and annotations is our ability to examine these putative elements in the dynamic context of a developing organism.
authors.affiliation: University of Alabama in Huntsville, Huntsville, AL, USA.
authors.forename: Candice J
authors.initials: CJ
authors.lastname: Coppola
authors.affiliation: HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA University of Alabama at Birmingham, Birmingham, AL, USA.
authors.forename: Ryne
authors.initials: R
authors.lastname: C Ramaker
authors.affiliation: University of Alabama in Huntsville, Huntsville, AL, USA HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA eric.mendenhall@uah.edu.
authors.forename: Eric M
authors.initials: EM
authors.lastname: Mendenhall