Genome-wide allele-specific analysis: insights into regulatory variation

Abstract

Functional genomics is rapidly progressing towards the elucidationof elements that are crucial for the cis-regulatory control of geneexpression, and population-based studies of disease and gene expressiontraits are yielding widespread evidence of the influence of non-codingvariants on trait variance. Recently, genome-wide allele-specificapproaches that harness high-throughput sequencing technology havestarted to allow direct evaluation of how these cis-regulatory polymorphismscontrol gene expression and affect chromatin states. The emergingdata is providing exciting opportunities for comprehensive characterizationof the allele-specific events that govern human gene regulation.