Annotating non-coding regions of the genome

Nat Rev Genet. 2010 Aug;11(8):559-71. doi: 10.1038/nrg2814. Epub 2010 Jul 13.


Most of the human genome consists of non-protein-coding DNA. Recently, progress has been made in annotating these non-coding regions through the interpretation of functional genomics experiments and comparative sequence analysis. One can conceptualize functional genomics analysis as involving a sequence of steps: turning the output of an experiment into a 'signal' at each base pair of the genome; smoothing this signal and segmenting it into small blocks of initial annotation; and then clustering these small blocks into larger derived annotations and networks. Finally, one can relate functional genomics annotations to conserved units and measures of conservation derived from comparative sequence analysis.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Conserved Sequence
  • DNA Transposable Elements
  • DNA, Intergenic / genetics*
  • Genome, Human*
  • Genomics / methods*
  • Genomics / trends
  • Humans
  • Pseudogenes
  • Regulatory Elements, Transcriptional
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Tandem Repeat Sequences


  • DNA Transposable Elements
  • DNA, Intergenic