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

Nat Rev Genet. 2010 Aug;11(8):533-8. doi: 10.1038/nrg2815. Epub 2010 Jun 22.


Functional genomics is rapidly progressing towards the elucidation of elements that are crucial for the cis-regulatory control of gene expression, and population-based studies of disease and gene expression traits are yielding widespread evidence of the influence of non-coding variants on trait variance. Recently, genome-wide allele-specific approaches that harness high-throughput sequencing technology have started to allow direct evaluation of how these cis-regulatory polymorphisms control gene expression and affect chromatin states. The emerging data is providing exciting opportunities for comprehensive characterization of the allele-specific events that govern human gene regulation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles*
  • Chromatin / genetics
  • Disease / genetics
  • Genome-Wide Association Study / trends*
  • Genomics / trends
  • Humans
  • Oligonucleotide Array Sequence Analysis / trends
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Tissue Distribution
  • Transcriptional Activation


  • Chromatin